COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

ABSTRACT: Primary coenzyme Q10 (CoQ10) deficiencies are rare, clinically heterogeneous disorders caused by mutations in several genes encoding proteins involved in CoQ10 biosynthesis. CoQ10 is an essential component of the electron transport chain (ETC), where it shuttles electrons from complex I or II to complex III. By whole-exome sequencing, we identified five individuals carrying biallelic mutations in COQ4. The precise function of human COQ4 is not known, but it seems to play a structural role in stabilizing a multiheteromeric complex that contains most of the CoQ10 biosynthetic enzymes. The clinical phenotypes of the five subjects varied widely, but four had a prenatal or perinatal onset with early fatal outcome. Two unrelated individuals presented with severe hypotonia, bradycardia, respirato

SUBMITTER: Brea-Calvo G 

PROVIDER: S-EPMC4320255 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature