Coenzyme Q (CoQ) is a key lipid component in the mitochondrial respiratory chain. Unambiguous and severe CoQ deficiency associated with encephalomyopathy has been reported in only two patients. We tested both patients for mutations in the COQ7 cDNA, the only identified human gene involved in CoQ biosynthesis and show that their CoQ deficiency does not result from mutations in the COQ7 Coding region. It is possible the CoQ deficiency in these individuals results from a mutation in another yet unidentified CoQ biosynthesis gene.
- Coenzyme Q
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Pathology and Forensic Medicine