Methyltransferase 11 Domain Containing Protein 1 (METT11D1)

Four nuclear candidate genes-NIPSNAP1, GBAS, CHCHD1 and METT11D1-were screened for mutations in 22 patients with a combined enzymatic deficiency of primarily the OXPHOS complexes I, III and IV to determine whether a mutation in one of these genes could explain the mitochondrial disorder. For each variant not yet reported as a polymorphism, 100 control samples were screened for the presence of the variant. No mutations were found that could explain the mitochondrial disorder in the patients investigated. The genetic defect in these patients must be located in other nuclear genes involved in mtDNA maintenance, transcription or translation, in import, processing or degradation of nuclear encoded mitochondrial proteins, or in assembly of the OXPHOS system.