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.