INTEREST OF SKIN FIBROBLASTS FOR THE DIAGNOSIS OF CYTOCHROME-C-OXIDASE DEFICIENCY

Mitochondrial respiratory chain dysfunction has been studied by two co mplementary methods using cultured skin fibroblasts from five patients with muscular cytochrome c oxydase (complex IV) deficiency: first, a screening test measuring lactate to pyruvate ratio (L/P) after supplem entation of cultured cells; secondly, measurement of complex IV activi ty in whole cells. Respiratory chain defect (increased L/P ratio with decreased complex IV activity) was expressed in fibroblasts of four of the five patients. Our results show that skin fibroblasts can be help ful for biochemical diagnosis of mitochondrial respiratory chain defec ts.