Article
Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation.
Biochimica et biophysica acta - 1 Feb 2010
Korsten Alex, de Coo Irenaeus F M, Spruijt Liesbeth, de Wit L Elly A, Smeets Hubert J M, Sluiter Wim
Abstract excerpt
Ninety-five percent of Leber hereditary optic neuropathy (LHON) patients carry a mutation in one out of three mtDNA-encoded ND subunits of complex I. Penetrance is reduced and more male than female carriers are affected. To assess if a consistent biochemical phenotype is associated with LHON expression, complex I- and complex II-dependent adenosine triphosphate synthesis rates (CI-ATP, CII-ATP) were determined in...
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