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Biology - Down's Syndrome - Term Paper Example

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Summary
According to the National Institutes of Health, Down syndrome is “the most common single cause of human birth defects” (Kaneshiro, 2010). Down syndrome is a trisomy of chromosome 21, which means that there are three chromosomes for pair 21 and so the person has a total of 47 chromosomes…
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Biology - Downs Syndrome
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"Biology - Down's Syndrome"

Download file to see previous pages Despite the alleged incurable nature of Down’s syndrome, it is possible that the fields of pharmacology and medicine have surely come up with ways to alleviate its symptoms as well as to be able to learn further about the disease. In fact, research through the medical and scientific databases on the latest scientific breakthroughs concerning Down’s syndrome resulted in the discovery of five journal articles relating the most recent breakthroughs on the disease.
Review of Literature
The study of Bradeau et al. conducted in Paris, France in 2011 is entitled “Specific targeting of the GABA-A receptor α5 subtype by a selective inverse agonist restores cognitive deficits in Down syndrome mice.” Based on the results of this study, one reason why there is an altered brain function among individuals with Down’s syndrome is that there is a chemical imbalance between inhibitory and excitatory neurotransmitters. One inhibitory transmitter, GABA or gamma-aminobutyric acid seems to occur in large amounts in the nervous system of Down’s syndrome patients and thus causes a relatively great amount of inhibition of certain cognitive functions among them. The study then utilized GABA-A antagonists in order to treat such chemical imbalance and the result was positive. As a result, the subjects of the experiment, Ts65Dn mice, or mice with Down’s syndrome, demonstrated restored cognitive functions. The specific chemical GABA-A antagonist, which is a ?5-subtype or ?5IA, was used to restore memory and learning functions n rats. The ?5IA subtype of GABA-A antagonist is different from its other subtypes because it is non-convulsant, which means to say that the other subtypes may cause convulsions if tested on humans. Other subtypes also caused certain changes in the tissues of the brain, liver and kidney of the experimental mice, but ?5IA did not. The study of Braudeau et al. was particularly important to the medical community as well as to families of Down’s syndrome patients because this new particular chemical or drug – GABA-A antagonist ?5IA subtype – may actually improve learning and memory problems among patients suffering from Down’s syndrome. Nonetheless, the drug has not yet been tested in humans for fear that although it may not cause convulsions in rats, it may still do so in humans. Moreover, the study was unique in itself because although it has been known that Down’s syndrome patients suffer from imbalanced inhibition and excitation at the cellular level, there had been no non-convulsant drug that promised any good cure until now. Another study, the one conducted by Perluigi and Butterfield in Kentucky, USA in 2011 is entitled “Oxidative Stress and Down Syndrome: A Route toward Alzheimer-Like Dementia.” This study involved the discovery of the physiological causes of the almost natural development of Alzheimer’s Disease among Down’s syndrome patients as early as their middle age. Although there are already genetic physical and mental abnormalities in a newborn child with Down’s syndrome, these pathological problems get worse as the patient gets older and thus may have a great chance of developing into Alzheimer’s Disease later on in life. The study found out that the causes of such development were “altered free radical metabolism” and “impaired mitochondrial function” (Perluigi & Butterfield, 2012). These two cellular processes, ...Download file to see next pagesRead More
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