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Nicotinamide in Friedreich's ataxia: useful or not?

Friedreich’s ataxia is an autosomal recessive neurodegenerative disorder caused by mutations in the frataxin gene (FXN), leading to progressive ataxia, cardiomyopathy, scoliosis, and various other clinical features. Most patients have GAA repeat expansions in intron 1 of FXN, leading to decreased concentrations of frataxin protein and downstream mitochondrial dysfunction. The GAA repeats lead to gene silencing through heterochromatin formation, and decreased transcription of FXN mRNA.

Read More: Nicotinamide in Friedreich's ataxia: useful or not?


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