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Vol. 7, Issue 11 (2018)

Neurodegenerative triplet repeat expansion disorders: A review

Mitesh Patel, RK Patel, Tushar Chauhan, Jigar Suthar and Sanjay Dave
Epigenetic alterations are the major causes of triplet repeat expansion. The repetitive DNA expands of its normal length results in sever neurodegenerative conditions. The common types of triplet repeat expansion (TNE) disorders are: Huntington disease, Friedreich ataxia, myotonic dystrophy, SBMA and SCA1 out of which Huntington disease, SBMA and SCA1 are categorized as a poly glutamine disorder due to the repeat of CAG. In contrast, the friedreich ataxia is occurred due to expansion of the GAA whereas myotonic dystrophy is due to the expansion of CTG. The triplet disease follows the mechanism of anticipation in which the onset of the disease increases with age. Conclusively, no clear mechanism can explain the origin of the disease. The pre mutation can be expanded in full mutation in successive generations and the number of repeats increased with each generation. TNE can observe in both somatic as well as germ line tissues.
Pages: 34-40  |  864 Views  12 Downloads

The Pharma Innovation Journal
How to cite this article:
Mitesh Patel, RK Patel, Tushar Chauhan, Jigar Suthar, Sanjay Dave. Neurodegenerative triplet repeat expansion disorders: A review. Pharma Innovation 2018;7(11):34-40.
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