![]() ![]() ![]() The disorders of the iron metabolism balances relate with many kinds of diseases including Alzheimer's disease, osteoporosis and various cancers. Iron metabolism behaves in systemic and cellular two levels that usually are in balance conditions. These data highlight the wide clinical heterogeneity of mitochondrial disorders related to ISC synthesis.Ībstract: Iron as an important element plays crucial roles in various physiological and pathological processes. Functional complementation in a yeast strain in which ARH1, the human FDXR ortholog, was deleted established the pathogenicity of these mutations. We observed deregulated iron homeostasis in FDXR mutant fibroblasts and indirect evidence of mitochondrial iron overload. ISC proteins are involved in enzymatic catalysis, gene expression, and DNA replication and repair. FDXR encodes the mitochondrial ferredoxin reductase, the sole human ferredoxin reductase implicated in the biosynthesis of iron-sulfur clusters (ISCs) and in heme formation. ![]() Whole-exome sequencing revealed biallelic mutations in FDXR in affected subjects of each family. Here, we report on eight subjects from four independent families affected by auditory neuropathy and optic atrophy. Abstract: Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. ![]()
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