P.54Defects in iron-sulphur cluster assembly proteins ISCU and FDX2 cause characteristic mitochondrial myopathy

Iron-sulphur (Fe-S) cluster-containing enzymes are essential for generation of energy for metabolic purposes. The mitochondrial respiratory chain, which includes Fe-S containing enzymes (Complex I-III) and a heme-containing enzyme (Complex IV), may be affected secondary to defects in Fe-S cluster biogenesis. How such defects affect the five enzyme complexes of the respiratory chain at the cellular level in tissues has not been clarified. We have analyzed muscle tissue from four patients with mutations in ISCU encoding mitochondrial Fe-S cluster scaffold protein, ISCU, and four patients with mutations in the FDX2 gene encoding ferredoxin 2.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research