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
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