Genética hereditária: pesquisas atuais

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A Study on Triplet Repeat Expansion Disorders in Western Indian Population

Sheth J, Shah S, Patel H, Bhavsar R, Bhatt K and Sheth F

Triplet repeat expansion disorders (TRED) are one of the commonest causes of hereditary neuropathy with thirty different heredity diseases due to increased number of trinucleotide repeats above certain threshold in the genomic DNA. The degree of disease aggressiveness depends on the number of repeats and resultant alteration in the expression of several genes. Moreover, mechanism of these disorders differs depending on the region of trinucleotide expansion (coding vs. non-coding regions). Present study comprises of 172 individuals suspected of triplet repeat expansion disorders such as Huntington’s disease (HD), Spinocerebellar ataxia (SCA), Friedreich’s ataxia (FA) and Myotonic dystrophy (MD) from Gujarat (Western Indian population) to know its frequency and clinical manifestations. Among them, 78 (45.34%) individuals were confirmed to have one of these four disorders. The age of onset varied from 11-45 years. SCA was the most common triplet repeat expansion disorder with a frequency of 43.60% followed by HD in 23.1%, MD in 21.8% and FA in 11.5% of patients. In addition, SCA2 was found to be the most common hereditary neuropathy in Western India.