Researchers suggest a pathway to reverse the genetic defect of Friedreich’s ataxia – Science Daily

Friedreich’s ataxia is a neurodegenerative disease caused by a genetic defect in which massive expansion of a three-letter DNA repeat (GAA) interferes with the production of an essential mitochondrial protein
Image: Tufts University

Scientists at Tufts University have identified a molecular mechanism that could reverse the genetic defect responsible for Friedreich’s ataxia, a neurodegenerative disease that leaves its victims with difficulty walking, a loss of sensation in the arms and legs and impaired speech caused by degeneration of nerve tissue in the spinal cord. The researchers report today in the Proceedings of the National Academy of Sciences that the genetic anomaly that causes the disease — the multiple repetition of a three letter DNA sequence — could potentially be reversed by enhancing a natural process that contracts the repetitive sequences in living tissue.

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