Which gene is associated with Friedrich's ataxia?

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Prepare for the Neuromuscular Interventions Test with flashcards and multiple-choice questions. Each question includes hints and explanations. Get ready to ace your exam!

Multiple Choice

Which gene is associated with Friedrich's ataxia?

Explanation:
Friedreich’s ataxia is caused by mutations in the FXN gene, which encodes the mitochondrial protein frataxin. The most common defect is a GAA trinucleotide repeat expansion in FXN that reduces frataxin production, leading to impaired mitochondrial function and the progressive neurodegenerative features of the condition. Among the listed genes, FXN is the one linked to Friedrich’s ataxia. The other genes are associated with different diseases: MT-ND1 is a mitochondrial gene involved in complex I disorders, CFTR causes cystic fibrosis, and BRCA2 is a DNA repair gene linked to cancer risk.

Friedreich’s ataxia is caused by mutations in the FXN gene, which encodes the mitochondrial protein frataxin. The most common defect is a GAA trinucleotide repeat expansion in FXN that reduces frataxin production, leading to impaired mitochondrial function and the progressive neurodegenerative features of the condition. Among the listed genes, FXN is the one linked to Friedrich’s ataxia. The other genes are associated with different diseases: MT-ND1 is a mitochondrial gene involved in complex I disorders, CFTR causes cystic fibrosis, and BRCA2 is a DNA repair gene linked to cancer risk.

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