【摘 要】
：
Friedreich ataxia (FRDA) is an inherited neurodegenerative disease caused by frataxin (FXN) deficiency due to the insertion of GAA triplet repeats within the first intron of FXN gene.FXN, a highly con
【机 构】
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Medical School of Nanjing University China
【出 处】
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2013第三届内分泌与代谢大会暨2013第二届糖尿病大会
论文部分内容阅读
Friedreich ataxia (FRDA) is an inherited neurodegenerative disease caused by frataxin (FXN) deficiency due to the insertion of GAA triplet repeats within the first intron of FXN gene.FXN, a highly conserved protein from bacteria to humans, is important in the biogenesis of mitochondrial iron-sulfur clusters (ISC), prosthetic groups allowing essential cellular functions such as oxidative phosphorylation, enzyme catalysis and gene regulation.Cells derived from FRDA patients have a partial defect in ISC-containing proteins, with consequent mitochondrial damage, lower ATP production, and impaired iron utilization, leading to mitochondrial iron accumulation.
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