Genetic disorders are diseases caused by abnormalities in one’s DNA. These “abnormalities” can range from a small mutation in a single nucleotide to the addition or subtraction of entire chromosome pairs. One might imagine why the mutation of a single gene could cause an entire disorder like Sickle Cell Disease or Cystic Fibrosis. It is because each three gene pair is called a codon. These codons are used in protein synthesis to make a specific protein. Each codon “codes” for a specific amino acid. However, if one codon (possibly one gene) is mutated, the wrong amino acid(s) may be used in protein synthesis. Now the organism has a completely different protein with a completely different structure than what it originally needed. A genetic disorder is born.
We get our genetic information from our parents. This process of passing on genes is called “inheritance.” Each parent contributes half or the offspring’s total DNA. Genes can be described as dominant or recessive. Since the offspring receives a copy of each chromosome from its parent, the gene that ‘dominates’ can be observed. However, the offspring could be a carrier for the recessive gene. The pattern can be described by the pattern aa, AA, Aa, (aA).
Alzheimer’s Disease (AD) is the most common form of dementia. I decided to research this disorder because my mom has dementia. Alzheimer’s disease is characterized as an incurable, degenerative, and terminal and is generally attributed to those over 65. As of now, no medicines slow the progression of the disease. Only some slightly reduce its symptoms. Only a few hypotheses are in acceptance. One describes reduced synthesis of the neurotransmitter acetylcholine. Another postulated that amyloid beta deposits were the cause for AD. Support for this idea came from the location of the gene for the amyloid beta precursor protein on chromosome 21. Evidence also arose when a pattern was noticed in patients with Down Syndrome. They developed AD by age 40 and have an extra gene copy of chromosome 21.
Stem cell research is the controversial study of regenerative cells. A stem cell is characterized by its ability to renew itself through mitosis and differentiate into specialized cell types. There are two broad classifications for mammalian stem cells: Embryonic and Adult (embryonic are more researched because they are more medically valuable). Embryonic stem cells are found in multi-cellular embryos ant are known as totipotent (omnipotent) meaning that they could, at this point, differentiate into any type of mammalian cell with enough stimulation for that type. Most research today is being done on mouse embryonic stem (mES) cells. Some research, however, has been conducted on human embryonic stem (hES) cells. Here lies the controversy. Many people believe that human embryos (even those obtained from abortions) should not be used for such research as it is “inhumane.” I believe that embryonic stem cell research should only be conducted on aborted embryos if the parent(s) agree(s) to it. I believe that it is their choice. However, in no cases should an embryo be used in research without parental consent. Alzheimer’s disease could be affected by stem cell research, but it is hard to say at this point. Little is known about Alzheimer’s and stem cells. Hopefully advances in stem cell research and determining the cause for AD can be paired into a cure for AD or even a treatment of any kind.
Thursday, October 22, 2009
Alzheimer’s and Stem Cells
Research Paper
- Explain how mutations can cause genetic disorders:
A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. - Describe inheritance patterns:
Genetic conditions caused by a mutation in a single gene follow predictable patterns of inheritance within families. Single gene inheritance is also referred to as Mendelian inheritance as they follow transmission patterns he observed in his research on peas. There are four types of Mendelian inheritance patterns:
Autosomal: the gene responsible for the phenotype is located on one of the 22 pairs of autosomes (non-sex determining chromosomes).
X-linked: the gene that encodes for the trait is located on the X chromosome.
Dominant: conditions that are manifest in heterozygotes (individuals with just one copy of the mutant allele).
Recessive: conditions are only manifest in individuals who have two copies of the mutant allele (are homozygous). - Choose a particular genetic disorder
Down syndrome
Describe in detail:
The cause of the disorder
Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history, and pure chance.
Any research current to this disorder
Many institutes are working on a cure for down syndrome but as of right now, there are no current cures for the disorder. One thing that has been done is plastic surgery. That is to decrease the social stigma which sometimes leads to a better quality of life. Plastic surgery is very uncommon though.
Problems that arise from this disorder
People that have down syndrome often have physical features that are uncommon. They have mircogenia which is a abnormally small chin, oblique eye fissures, muscle hypotonia (poor mucle tone), a flat nasal bridge, a single palmar fold, a protruding tongue and more. Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual symptoms due to complex gene and environment interactions. Prior to birth, it is not possible to predict the symptoms that an individual with Down syndrome will develop. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as epilepsy. Cognitive development in children with Down syndrome is quite variable. Language skills show a difference between understanding speech and expressing speech, and commonly individuals with Down syndrome have a speech delay, requiring speech therapy to improve expressive language. Fine motor skills are delayed and often lag behind gross motor skills and can interfere with cognitive development.
Any other interesting information relative to this disorder
Pregnant women can be screened for various complications during pregnancy. Many standard prenatal screens can discover Down syndrome. Genetic couseling. along with genetic testing, such as amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical cord blood sampling (PUBS) are usually offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems.
- Stem cell research
What is it?
Stem cell research is a relatively new technology that takes primitive human cells and develops them into most any of the 220 varieties of cells in the human body, including blood cells and brain cells.
Why is it so controversial?
The controversy over stem cells is from the destruction of fertilized human eggs when harvesting embryonic stem cells, therefore killing the human child that the egg could have developed into. Currently, scientists and researchers are only using embryos that are unwanted and would already not be given an opportunity to develop into a human being. For instance, infertility doctors typically create several embryos for women who are unable to naturally become pregnant, and then the doctor chooses the best fertilized egg to implant into the woman and disposes of all the remaining eggs. Instead of these embryonic eggs going to waste, they are sometimes used for stem cell research.
Your stance on if it should/ should not be legal
I think that stem cell research should be legal if fertilized human eggs aren’t being destroyed. I think that stem cells could potentially (if done correctly with enough research) help people that have many disorders or diseases have a normal life that many others already have.
Potential impact of SCR on your disorder
Stem cell research could possibly find a cure for down syndrome although at this moment there is no cure for it. It could give those people a normal life that they do not have.
The human genome is a very complex thing, scientists aren’t even close to figuring it out, and every thing needs to be just right for a “normal” child to be born. If even the smallest gene is changed it could result in a child that has a disorder. These mutations are when the normal DNA sequence of a gene is changed in a way that makes it so a protein encoded by the gene malfunctions. If a protein malfunctions then every cell containing that protein is at risk, and those cells are putting the cells around them at risk, of not being able to do their job, creating a defect in the child.
Mutations can occur because of chance, or they can be passed through generations, these patterns are called inheritance patterns. There are four different types of single gene inheritance patterns, these are autosomal dominant, autosomal recessive, x-linked dominant, and x-linked recessive. The autosomal traits are found on the 22 non-sex determining pairs of chromosomes. The x-linked traits are all found on your x chromosome. The other two types of inheritance patterns are multifactoral inheritance, where several factors create the disorder, and mitochondrial inheritance, where the mitochondria’s function is slowed, or ended.
An example of a genetic disorder is Huntington’s Disease, which is an inherited neurological disorder that causes involuntary movements, severe emotional disturbance, and cognitive decline. The gene that causes Huntington’s is found on chromosome 4 which codes for the protein huntingtin, whose function is unknown. Huntingtin is usually coded with the three letters CAG repeated 11-29 times, but in the defective gene CAG is repeated 40-80 times. Huntington’s is a disease that causes the malfunctioning huntingtin to clump in the brain, most commonly effecting the Basal ganglia and cortex, which control movement, thought, perception, and memory. It also destroys neurological cells. The latest discovery relating to Huntington’s happened while it was being researched at the University of California Irvine; here they found that they could prevent cell death in a fruit fly that carried the gene defect. They believe they’ve found how the mutation alters the chemical pathway to cause the disease.Stem cell research is a hot button issue these days that has the potential to help cure many disorders involving cell death, overgrowth, or malfunction. Stem cells are cells that can be turned into almost any kind of cell, which could help cure those with disorders that cause cell malfunction. Stem cells were first taken from embryos, these embryonic stem cells are why most people are against stem cell research, they believe that it is wrong to create embryos just for their cells and then just get rid of them. However now there is a new type of stem cell found in adults. Adult stem cells are undifferentiated cells among cells that serve a purpose, and these can be programmed for a function. Induced pluripotent stem cells are adult cells that have been returned to an embryonic state and are used for the same function. Stem cell research should be legalized so that people who are suffering from painful and life altering disorders may have the chance to be like everyone else. Stem cell research has they potential to cure those with Huntington’s, by replacing the dead neurological cells in their brains.
Mutations can occur because of chance, or they can be passed through generations, these patterns are called inheritance patterns. There are four different types of single gene inheritance patterns, these are autosomal dominant, autosomal recessive, x-linked dominant, and x-linked recessive. The autosomal traits are found on the 22 non-sex determining pairs of chromosomes. The x-linked traits are all found on your x chromosome. The other two types of inheritance patterns are multifactoral inheritance, where several factors create the disorder, and mitochondrial inheritance, where the mitochondria’s function is slowed, or ended.
An example of a genetic disorder is Huntington’s Disease, which is an inherited neurological disorder that causes involuntary movements, severe emotional disturbance, and cognitive decline. The gene that causes Huntington’s is found on chromosome 4 which codes for the protein huntingtin, whose function is unknown. Huntingtin is usually coded with the three letters CAG repeated 11-29 times, but in the defective gene CAG is repeated 40-80 times. Huntington’s is a disease that causes the malfunctioning huntingtin to clump in the brain, most commonly effecting the Basal ganglia and cortex, which control movement, thought, perception, and memory. It also destroys neurological cells. The latest discovery relating to Huntington’s happened while it was being researched at the University of California Irvine; here they found that they could prevent cell death in a fruit fly that carried the gene defect. They believe they’ve found how the mutation alters the chemical pathway to cause the disease.Stem cell research is a hot button issue these days that has the potential to help cure many disorders involving cell death, overgrowth, or malfunction. Stem cells are cells that can be turned into almost any kind of cell, which could help cure those with disorders that cause cell malfunction. Stem cells were first taken from embryos, these embryonic stem cells are why most people are against stem cell research, they believe that it is wrong to create embryos just for their cells and then just get rid of them. However now there is a new type of stem cell found in adults. Adult stem cells are undifferentiated cells among cells that serve a purpose, and these can be programmed for a function. Induced pluripotent stem cells are adult cells that have been returned to an embryonic state and are used for the same function. Stem cell research should be legalized so that people who are suffering from painful and life altering disorders may have the chance to be like everyone else. Stem cell research has they potential to cure those with Huntington’s, by replacing the dead neurological cells in their brains.
Genetic Disorder Research Project
A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes.
Genetic conditions caused by a mutation in a single gene follow predictable patterns of inheritance within families. Most diseases have multifactorial inheritance patterns. As the name implies, multifactorial conditions are not caused by a single gene, but rather are a result of interplay between genetic factors and environmental factors.A typical pedigree from a family with a mutation in the BRCA1 gene. Fathers can be carriers and pass the mutation onto offspring. Not all people who inherit the mutation develop the disease, thus patterns of transmission are not always obvious.
Mitochondria are only inherited from the mother's egg, thus only females can transmit the trait to offspring, however they pass it on to all of their offspring. The primary function of mitochondria is conversion of molecule into usable energy. Thus many diseases transmitted by mitochondrial inheritance affect organs with high-energy use such as the heart, skeletal muscle, liver, and kidneys.
Hemophilia- is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.
· Hemophilia is an inherited disease. Specifically, hemophilia is caused by mutations in the F8 or F9 genes. In most cases, hemophilia is passed from a female carrier to her son; however, it is possible for boys with hemophilia to be born to mothers who are not carriers when there is a random mutation in the gene as it is passed on to the child. Although it is very rare, it is possible for a girl to be born with hemophilia.
· Hemophilia is caused by a defect in one of the genes that determines how the body makes blood clotting factors 8 and 9. These genes are located on the X chromosomes, which determine whether a baby is a boy or girl.
· Mutations in the F8 or F9 genes cause hemophilia. Mutations in the F8 gene cause hemophilia A, while hemophilia B is caused by mutations in the F9 gene.
· The proteins made by these genes play a critical role in the process of blood clotting. Mutations in either gene prevent clots from forming in response to injury, which lead to excessive bleeding that can be difficult to control.
· A man who has hemophilia cannot pass the disease on to his sons; however, all of his daughters will be carriers.
Stem cells are seen by many researchers as having virtually unlimited application in the treatment and cure of many human diseases and disorders including Alzheimer's, diabetes, cancer, strokes, etc.
Some people view the killing of any embryo in order to extract its stem cells to be a form of homicide. They are generally opposed to such research. Others disagree. They believe that an embryo has the potential to develop into a person, but is not a person itself. They note that an embryo is not sentient; it has no brain, sensory organs, ability to think, memory, awareness of its surroundings, consciousness, internal organs, arms, legs, head, etc. They feel that research using stem cells derived from embryos is ethical. Fortunately, if IPS cell technology develops as expected, it will eventually replace the need to derive stem cells from embryos.
I agree with some of the stem cell research out there, I think that if they can find a way to cure cancer and other diseases that are deadly and yet to find the cure to, would be amazing.
Mouse embryonic stem cells treated in culture with a growth factor and then injected into the liver reverse a form of hemophilia in mice analogous to hemophilia B in humans.
Genetic conditions caused by a mutation in a single gene follow predictable patterns of inheritance within families. Most diseases have multifactorial inheritance patterns. As the name implies, multifactorial conditions are not caused by a single gene, but rather are a result of interplay between genetic factors and environmental factors.A typical pedigree from a family with a mutation in the BRCA1 gene. Fathers can be carriers and pass the mutation onto offspring. Not all people who inherit the mutation develop the disease, thus patterns of transmission are not always obvious.
Mitochondria are only inherited from the mother's egg, thus only females can transmit the trait to offspring, however they pass it on to all of their offspring. The primary function of mitochondria is conversion of molecule into usable energy. Thus many diseases transmitted by mitochondrial inheritance affect organs with high-energy use such as the heart, skeletal muscle, liver, and kidneys.
Hemophilia- is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.
· Hemophilia is an inherited disease. Specifically, hemophilia is caused by mutations in the F8 or F9 genes. In most cases, hemophilia is passed from a female carrier to her son; however, it is possible for boys with hemophilia to be born to mothers who are not carriers when there is a random mutation in the gene as it is passed on to the child. Although it is very rare, it is possible for a girl to be born with hemophilia.
· Hemophilia is caused by a defect in one of the genes that determines how the body makes blood clotting factors 8 and 9. These genes are located on the X chromosomes, which determine whether a baby is a boy or girl.
· Mutations in the F8 or F9 genes cause hemophilia. Mutations in the F8 gene cause hemophilia A, while hemophilia B is caused by mutations in the F9 gene.
· The proteins made by these genes play a critical role in the process of blood clotting. Mutations in either gene prevent clots from forming in response to injury, which lead to excessive bleeding that can be difficult to control.
· A man who has hemophilia cannot pass the disease on to his sons; however, all of his daughters will be carriers.
Stem cells are seen by many researchers as having virtually unlimited application in the treatment and cure of many human diseases and disorders including Alzheimer's, diabetes, cancer, strokes, etc.
Some people view the killing of any embryo in order to extract its stem cells to be a form of homicide. They are generally opposed to such research. Others disagree. They believe that an embryo has the potential to develop into a person, but is not a person itself. They note that an embryo is not sentient; it has no brain, sensory organs, ability to think, memory, awareness of its surroundings, consciousness, internal organs, arms, legs, head, etc. They feel that research using stem cells derived from embryos is ethical. Fortunately, if IPS cell technology develops as expected, it will eventually replace the need to derive stem cells from embryos.
I agree with some of the stem cell research out there, I think that if they can find a way to cure cancer and other diseases that are deadly and yet to find the cure to, would be amazing.
Mouse embryonic stem cells treated in culture with a growth factor and then injected into the liver reverse a form of hemophilia in mice analogous to hemophilia B in humans.
Research Project: Genetic Disorder
Genetic disorders are diseases caused by abnormalities in an individual’s genetic material. The abnormality can either be one of four single-gene, multifactorial, chromosomal, and mitochondrial. Single gene is when one gene is changed, mutifactorial is when multiple genes are changed, chromosomal is when one chromosome is missing or one is added and mitochondrial caused by mutations in the nonchromosomal DNA of mitochondria.
Strong or big genetic diseases can be inherited but then some smaller ones will not be inherited by the off-spring. If it’s a single gene mutation the disease is going to be inherited by the off-spring but multifactoral is more than likely not going to be passed on. Single gene mutation can either be a recessive or it can be dominant. Recessive is when both copies of a gene must be damaged or mutated. Dominant diseases are genetic diseases that only require a single copy of the gene to be damaged. From all this you can tell that there is a lot of ways and reason why a off-spring could receive a genetic disease. There are lots of ways they can get it. One switch could change someone’s life.
One genetic disease that I found was batten disease. Batten disease is a rare genetic disorder that severely affects the nervous system. This usually begins in children, between the ages of 5 to 10. Some early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Theses symptoms will occur due to the buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Another symptom is vision loss and this is usually the first symptom that is found because it can be shown in eye test. Batten disease is a recessive mutation, meaning both the genes need to be mutated. The good thing about this is you could only have one gene mutated and you would only be a carrier but you have a one in four change of giving it to your off-spring. An interesting fact about this is you usually only life to be about late teens early twenties. There is no current treatment for it which is why people only live as long as they do. I think they should be happy that they are able to live as long as they are able to and just be grateful for the life they do get to live. Another interesting fact is this disease appears to be more common in Finland, Sweden, other parts of northern Europe, and Newfoundland, Canada.
Stem cells are cells that have the potential to develop into some or many different cell types in the body. These cells can potentially help repair systems. Other words they divide without limit to replenish other cells for as long as the person or animal is still alive.When they do divide they can either stay a stem cell or they go change into a blood cell or muscle cell or brain cell. There are two different types: Pluripotent stem cells are any type of cell in the body except those needed to support and develop a fetus in the womb. Multipotent stem cells deal with a small number of different cell types. Stem cells are able to pretty much grow into anything they want and that is the reason that doctors want to be able to do stem cell research, they think in the long run that it is going to help the people. They want to be able to save a person that has cancer. Take the new cells that are found in the stem cell and put that into their useful DNA. Pretty much get rid of the disease without treatment or radiation. One type of stem cell research that is the most controverial is embryonic cells. Embryonic stem cell research has been getting the most money but this happens to be the one that people don’t like the most. They believe that they are killing life when they do this research and people see that as murder. Doctors argue that when you take the embryonic stem cell that there is no life and that people shouldn’t worry about that. Depending on your type of disorder stem cell research could benefit you by figuring out where the source of the problem is or it couldn’t benefit you. But like I said it just all depends on your health problem. In my opinion I don’t k now why this would be so bad, stem cell research overall. If we can use human DNA to help cure and save peoples lives isn’t that a good thing?
-Hannah Olson
Strong or big genetic diseases can be inherited but then some smaller ones will not be inherited by the off-spring. If it’s a single gene mutation the disease is going to be inherited by the off-spring but multifactoral is more than likely not going to be passed on. Single gene mutation can either be a recessive or it can be dominant. Recessive is when both copies of a gene must be damaged or mutated. Dominant diseases are genetic diseases that only require a single copy of the gene to be damaged. From all this you can tell that there is a lot of ways and reason why a off-spring could receive a genetic disease. There are lots of ways they can get it. One switch could change someone’s life.
One genetic disease that I found was batten disease. Batten disease is a rare genetic disorder that severely affects the nervous system. This usually begins in children, between the ages of 5 to 10. Some early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Theses symptoms will occur due to the buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Another symptom is vision loss and this is usually the first symptom that is found because it can be shown in eye test. Batten disease is a recessive mutation, meaning both the genes need to be mutated. The good thing about this is you could only have one gene mutated and you would only be a carrier but you have a one in four change of giving it to your off-spring. An interesting fact about this is you usually only life to be about late teens early twenties. There is no current treatment for it which is why people only live as long as they do. I think they should be happy that they are able to live as long as they are able to and just be grateful for the life they do get to live. Another interesting fact is this disease appears to be more common in Finland, Sweden, other parts of northern Europe, and Newfoundland, Canada.
Stem cells are cells that have the potential to develop into some or many different cell types in the body. These cells can potentially help repair systems. Other words they divide without limit to replenish other cells for as long as the person or animal is still alive.When they do divide they can either stay a stem cell or they go change into a blood cell or muscle cell or brain cell. There are two different types: Pluripotent stem cells are any type of cell in the body except those needed to support and develop a fetus in the womb. Multipotent stem cells deal with a small number of different cell types. Stem cells are able to pretty much grow into anything they want and that is the reason that doctors want to be able to do stem cell research, they think in the long run that it is going to help the people. They want to be able to save a person that has cancer. Take the new cells that are found in the stem cell and put that into their useful DNA. Pretty much get rid of the disease without treatment or radiation. One type of stem cell research that is the most controverial is embryonic cells. Embryonic stem cell research has been getting the most money but this happens to be the one that people don’t like the most. They believe that they are killing life when they do this research and people see that as murder. Doctors argue that when you take the embryonic stem cell that there is no life and that people shouldn’t worry about that. Depending on your type of disorder stem cell research could benefit you by figuring out where the source of the problem is or it couldn’t benefit you. But like I said it just all depends on your health problem. In my opinion I don’t k now why this would be so bad, stem cell research overall. If we can use human DNA to help cure and save peoples lives isn’t that a good thing?
-Hannah Olson
Genetic Disorders Research
A genetic mutation is a permanent change in a DNA sequence. These mutations can be very large or very small ranging from one DNA base to a large segment of a chromosome. Genetic mutations can be inherited from a parent or can be obtained through a person’s lifetime. People have two copies of each gene (one acquired from each parent) The two copies of the gene may be exactly the same or be slightly different versions called alleles. A genetic disorder is caused from an abnormality in the chromosomes or alleles.
Angelman Syndrome is a complex genetic disorder that mostly affects the nervous system. It is estimated to affect 1 in12,000 to 20,000 people. It results from a loss of the function of the gene UBE3A. People normally inherit one copy of this gene from each parent. Both copies are turned on in body tissues. However, in certain parts of the brain, the only copy inherited is from the mother. This mutation is caused by genomic imprinting. If the UBE3A gene is lost, they will have no active copies in some parts of the brain. Most cases of Angelman Syndrome occur when a segment of the maternal chromosome 15 containing this gene is deleted. The causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals. Some characteristics include developmental delay, intellectual disability, speech impairments, and difficulties in movement and balance. Most children with Angelman Syndrome suffer from epilepsy and display abnormal qualities in young ages. They typically display frequent smiling, laughter, and hand-flapping movements. Hyperactivity and a short attention span are common. Other physical characteristics include pale skin and light colored hair. As people with Angelman syndrome age, the disorder becomes less excitable. However, affected people tend to still have intellectual disabilities, speech impediments, and seizures.
Stem cell research takes primitive human cells and develops them into most any of the 220 varieties of cells in the human body. Stem cell research is used due to the hope that it can uncover treatments and possibly cures for some of the worst diseases in the world. However, it includes fears of human cloning and has concerns over the ethics of destroying human embryos. For this reason, SCR is very controversial due to the destruction of fertilized human eggs when harvesting embryonic stem cells, therefore killing the human child. Currently, however, scientists and researchers are only using embryos that are unwanted and would not be given an opportunity to develop. I feel that SCR is acceptable as long as the embryos were not wanted. I don’t think SCR should be conducted on embryos that do have a chance of developing into humans. Stem cell research is not in great use for developing a cure for Angelman syndrome as much as it is in the affects of Angelman syndrome such as scoliosis.
Angelman Syndrome is a complex genetic disorder that mostly affects the nervous system. It is estimated to affect 1 in12,000 to 20,000 people. It results from a loss of the function of the gene UBE3A. People normally inherit one copy of this gene from each parent. Both copies are turned on in body tissues. However, in certain parts of the brain, the only copy inherited is from the mother. This mutation is caused by genomic imprinting. If the UBE3A gene is lost, they will have no active copies in some parts of the brain. Most cases of Angelman Syndrome occur when a segment of the maternal chromosome 15 containing this gene is deleted. The causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals. Some characteristics include developmental delay, intellectual disability, speech impairments, and difficulties in movement and balance. Most children with Angelman Syndrome suffer from epilepsy and display abnormal qualities in young ages. They typically display frequent smiling, laughter, and hand-flapping movements. Hyperactivity and a short attention span are common. Other physical characteristics include pale skin and light colored hair. As people with Angelman syndrome age, the disorder becomes less excitable. However, affected people tend to still have intellectual disabilities, speech impediments, and seizures.
Stem cell research takes primitive human cells and develops them into most any of the 220 varieties of cells in the human body. Stem cell research is used due to the hope that it can uncover treatments and possibly cures for some of the worst diseases in the world. However, it includes fears of human cloning and has concerns over the ethics of destroying human embryos. For this reason, SCR is very controversial due to the destruction of fertilized human eggs when harvesting embryonic stem cells, therefore killing the human child. Currently, however, scientists and researchers are only using embryos that are unwanted and would not be given an opportunity to develop. I feel that SCR is acceptable as long as the embryos were not wanted. I don’t think SCR should be conducted on embryos that do have a chance of developing into humans. Stem cell research is not in great use for developing a cure for Angelman syndrome as much as it is in the affects of Angelman syndrome such as scoliosis.
Genetic Disorders
A genetic mutation is any change in an individual’s genetic structure. These changes are caused by the nucleotide structures of genetic material in an organism being transformed into something different than what it should be. Ways the genetic structure can be changed are by deletion, duplication, inversion, insertion and translocation. These mutations can be harmful, nonlethal or neutral to an individual. When the mutations change the genetic sequence, the genes of the individual are changed, affecting some quality of such individual.
Inheritance patterns trace the transmission of genetically encoded traits, conditions or diseases to offspring. The ways that mutation can be inherited are by a single gene or Mendelian transfer, multifactorial inheritance, and mitochondrial inheritance. Single Gene mutations follow predictable patterns within families. The inheritance patterns of single gene mutations are either autosomal or x-linked, but those can either be dominant or recessive. Multifactorial inheritance patterns are caused by multiple genetic and environmental factors put together. Diseases of multifactorial inheritance aren’t genetically determined, but a genetic mutation can predispose an individual to a certain disease. Other genetic and environmental factors contribute to whether or not the disease develops. Mitochondrial inheritance comes from the mitochondria. Mitochondria are only inherited from the mother's egg, thus only females can transmit the trait to offspring, however, they pass it on to all of their offspring. The primary function of mitochondria is conversion of molecule into usable energy. Thus many diseases transmitted by mitochondrial inheritance affect organs with high-energy use such as the heart, skeletal muscle, liver, and kidneys.
Di George’s Syndrome is caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome on the long arm of one of the pair of chromosomes 22. Very rarely, patients also have deletions on the small arm of chromosome 10. About 1 in 4000 people is diagnosed with this disorder. When someone has this disorder, they are missing about 3 million base pairs of DNA. As of right now, there is no treatment for Di George’s syndrome, but some of the individual symptoms can be treated. Symptoms of these individuals include but are not limited to are, congenital heart disease (40% of individuals), palatal abnormalities (50%), learning difficulties (90%), hypocalcemia (50%), renal abnormalities (37%), hearing loss, growth hormone deficiency, autoimmune disorders, seizures and skeletal abnormalities.
Stem cell research uses the live stem cells of an individual to use in the treatment of many disorders and diseases. Stem cells can develop into many different cell types during the growth of the body. These tissues act as an internal repair system for the body replenishing other cells throughout the body. The types of cells used are embryonic stem cells, adult stem cells, and induced pluripotent stem cells, mouse stem cells are also used sometimes. It’s so controversial because people find it inhumane to take stem cells from other beings to try and cure someone else. I think stem cell research is a good thing just in that it could potentially cure so many disorders and diseases. The possibilities are endless with this kind of research. The downfall however, is that you are taking stem cells from something alive like mice or an embryo which kills them. That’s the big problem with this research. I think stem cell research might be able to treat different symptoms of Di George’s syndrome, but not the missing piece of chromosome itself. Stem cell research cannot create a chromosome or gene which is how Di George’s would have to be cured.
Inheritance patterns trace the transmission of genetically encoded traits, conditions or diseases to offspring. The ways that mutation can be inherited are by a single gene or Mendelian transfer, multifactorial inheritance, and mitochondrial inheritance. Single Gene mutations follow predictable patterns within families. The inheritance patterns of single gene mutations are either autosomal or x-linked, but those can either be dominant or recessive. Multifactorial inheritance patterns are caused by multiple genetic and environmental factors put together. Diseases of multifactorial inheritance aren’t genetically determined, but a genetic mutation can predispose an individual to a certain disease. Other genetic and environmental factors contribute to whether or not the disease develops. Mitochondrial inheritance comes from the mitochondria. Mitochondria are only inherited from the mother's egg, thus only females can transmit the trait to offspring, however, they pass it on to all of their offspring. The primary function of mitochondria is conversion of molecule into usable energy. Thus many diseases transmitted by mitochondrial inheritance affect organs with high-energy use such as the heart, skeletal muscle, liver, and kidneys.
Di George’s Syndrome is caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome on the long arm of one of the pair of chromosomes 22. Very rarely, patients also have deletions on the small arm of chromosome 10. About 1 in 4000 people is diagnosed with this disorder. When someone has this disorder, they are missing about 3 million base pairs of DNA. As of right now, there is no treatment for Di George’s syndrome, but some of the individual symptoms can be treated. Symptoms of these individuals include but are not limited to are, congenital heart disease (40% of individuals), palatal abnormalities (50%), learning difficulties (90%), hypocalcemia (50%), renal abnormalities (37%), hearing loss, growth hormone deficiency, autoimmune disorders, seizures and skeletal abnormalities.
Stem cell research uses the live stem cells of an individual to use in the treatment of many disorders and diseases. Stem cells can develop into many different cell types during the growth of the body. These tissues act as an internal repair system for the body replenishing other cells throughout the body. The types of cells used are embryonic stem cells, adult stem cells, and induced pluripotent stem cells, mouse stem cells are also used sometimes. It’s so controversial because people find it inhumane to take stem cells from other beings to try and cure someone else. I think stem cell research is a good thing just in that it could potentially cure so many disorders and diseases. The possibilities are endless with this kind of research. The downfall however, is that you are taking stem cells from something alive like mice or an embryo which kills them. That’s the big problem with this research. I think stem cell research might be able to treat different symptoms of Di George’s syndrome, but not the missing piece of chromosome itself. Stem cell research cannot create a chromosome or gene which is how Di George’s would have to be cured.
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