Which gene is involved in the pathogenesis of Friedrich Ataxia?

Friedreich Ataxia is a hereditary degenerative disease that primarily affects the nervous system and the heart. The condition is caused by mutations in the FXN gene, which encodes the protein frataxin. Frataxin plays a crucial role in mitochondrial function, particularly in the biosynthesis of iron-sulfur clusters that are essential for mitochondrial energy production.

In Friedrich Ataxia, the mutation usually consists of an expanded GAA triplet repeat in the first intron of the FXN gene. This repeat expansion leads to reduced transcription of the FXN gene, resulting in decreased levels of frataxin protein. The deficiency of frataxin contributes to mitochondrial dysfunction, oxidative stress, and subsequent neuronal degeneration, particularly affecting the spinal cord and peripheral nerves.

The other genes listed—CNBP, DMPK, and HTT—are associated with different genetic disorders. CNBP (CCHC-type zinc finger protein) is related to conditions such as myotonic dystrophy, DMPK (dystrophia myotonica protein kinase) is involved in myotonic dystrophy, and HTT (huntingtin) is associated with Huntington's disease. Each of these genes has a distinct role in their respective conditions and