Mt-nd5 mutation exhibits highly variable neurological manifestations at low mutant load

HIGHLIGHTS

• who: Mitochondrial encephalomyopathy and collaborators from the Wellcome Centre for Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK have published the research: MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load, in the Journal: (JOURNAL)

SUMMARY

Defects in oxidative_phosphorylation (OXPHOS) are an important cause of human morbidity and mortality, with complex I (NADH-ubiquinone oxidoreductase) deficiency recognized as the most commonly observed OXPHOS defect (Rodenburg, 2016). Complex I (NADH: ubiquinone oxidoreductase) is the largest component of the oxidative_phosphorylation system (OXPHOS) composed of 45 subunits that, in supercomplex formation . . .

 



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