Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

“…In addition to G13513A, at least 10 other MTND5 mutations have been reported to be associated with the oxidative phosphorylation disease. 20,26 In this study, we reported a new MTND5 point mutation, T13046C (p.M237T), which was also detected in a patient with typical MELAS/LS overlap syndrome (patient 1). Although functional studies of the new sequence variant have to be performed, we consider the T13046C to be the causative mutation in the patient 1 based on its heteroplasmy, strong conservation and absence in several tissues of the unaffected mother of the index patient.…”

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

“…40 A number of common 'recurrent' mtDNA mutations have also been identified in multiple unrelated pedigrees by different diagnostic centres. However, preferential screening of mtDNA genes or of recurrent mutations based on phenotype, postulated 'hotspots' or common mutations will fail to diagnose many patients as genotype-phenotype correlations are variable and the majority of mtDNA mutations have still only been reported once.…”

Modeling of Antigenomic Therapy of Mitochondrial Diseases by Mitochondrially Addressed RNA Targeting a Pathogenic Point Mutation in Mitochondrial DNA

“…The ND5 gene turned out to be mutated frequently (30). Point mutation A13514G-inducing amino acid replacement D393G has been detected in four unrelated patients with MELAS-like and Leigh syndromes (19,36,37).…”

“…Another transition, the frequently reported and well documented G13513A, affects the same Asp-393 residue in the ND5 gene, but the amino acid replacement is different, D393N (reviewed in Ref. 30). A prominent clinical feature detected in patients with these mutations was a visual loss due to optic atrophy, indicating an exquisite sensitivity of the optic nerve to damage caused by alteration of the ND5 Asp-393 residue (38).…”