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Complex I and ATP content deficiency in lymphocytes from Friedreich's ataxia.

BACKGROUND:

Friedreich's ataxia (FRDA) is an inherited recessive disorder characterized by progressive neurological disability and heart abnormalities. A deficiency in the protein frataxin causes this disease. Frataxin deficiency leads to progressive iron accumulation in mitochondria, excessive free radical production and dysfunction of respiratory chain complexes. The expansion (GAA) repeat in the first intron causes decreased frataxin expression by interfering with transcription.

Read More: Complex I and ATP content deficiency in lymphocytes from Friedreich's ataxia.

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