[The role of MT-ND1 m.3635G>A mutation in Leber's hereditary optic neuropathy].

To investigate the role of MT-ND1 m.3635G>A mutation in the pathogenesis of Leber's hereditary optic neuropathy (LHON).Biochemical characteristics including the activity of complex Ⅰ, ATP production and oxygen consumption rate among lymphoblastoid cell lines derived from 3 carriers, 3 affected matrilineal relatives of the families and 3 controls were compared.Comparison of mitochondrial functions in lymphoblastoid cell lines of the carriers, patients and controls showed a 51.0% decrease in the activity of complex Ⅰ in patients compared with controls (P A mutation has resulted in decreased efficiency of ATP synthesis (P A, as a LHON-associated mutation, can lead to mitochondrial dysfunction.