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Tay-Sachs

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A Genetic Dis : Tay-Sachs Disease

Most infants born with normally developed motor functions have the ability to synthesize specific enzymes necessary for a healthy growth process . But babies inflicted with a rare genetic dis called Tay-Sachs disease experience motor dysfunction due to the continuous degradation of their central nervous system . This dis is detectable prior a child 's birth , and it is possible to compute for the probability of a newborn phenotypically manifesting the disease . However , at present , experts are yet

to discover the proper treatment for this condition (Lowden 575

Tay-Sachs dis is typically found among Ashkenazi Jews from Eastern Europe . But other population also manifest this metabolic dis including the Cajuns of Southwestern Louisiana and the French Canadians of Southeastern Quebec . It is normally manifested by a defined population , where patients acquire their disease through genetic inheritance . Tay-Sachs is an autosomal recessive dis manifested due to a defect on an individual 's chromosome number 15 leading to a defect in the function of the lysosome organelle . This mutation results in an individual 's failure to direct its lysosome to properly synthesize the enzyme acid hydrolase . This consequently leads to the enzymatic dysfunction of Beta Hexosaminidase A , which is has a vital impact on the lysosomal storage function (Ohno and Suzuki 18563 Genes and Disease 23

This genetic disease primarily arises due to the modification specifically a point mutation , of the alpha subunit , which leads to the failure of ?-N-Hexosaminidase A to proceed its normal activity . This abnormality found in the alpha subunit is related to the 5 ' end , where mutations including insertions and deletion of base pairs occur . In every form of modification occurring , protein products are altered These alterations cause enzymatic function inhibition , and therefore cellular dysfunction . In the case of the Ashkenazi Jews , the said mutation is commonly found at exon 11 , where four base pairs are inserted . Due to the mentioned mutations , Ganglioside GM2 enzymes are instead synthesized . The cell does not possess the ability to degrade these enzymes , and therefore accumulate the latter instead . These granular bodies are typically detected through microscopic examinations of neuronal bodies , furthermore reinforcing the presence of the dis . Because of these glycogen lipid accumulations , the neurons myelin sheaths are destroyed thereby causing the various symptoms and different clinical manifestations of the disease (Li et al . 10014 Van de Graaff 370

This disease is commonly the result of the passing of this chromosomal defect from parent to offspring . Tay-Sachs disease is a recessive dis , therefore it is only manifested when a child acquires both alleles coding for the dis . Heterozygous offspring only carry one allele , therefore are only considered carriers of the dis . They are not afflicted and will continue to function normally . The normal allele can compensate for the impairment of the other . However these carrier individuals possess the ability to pass the genes to their children (Branda et al . 174

Manifestations of Tay-Sachs disease among afflicted individuals have varying degree of...

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