The role of MT-ND1 m.3635G>A mutation in Leber's hereditary optic neuropathy / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the role of MT-ND1 m.3635G>A mutation in the pathogenesis of Leber's hereditary optic neuropathy (LHON).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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<0.05). The m.3635G>A mutation has resulted in decreased efficiency of ATP synthesis (P<0.05). Comparison of oxygen consumption rate showed that the basal OCR (P<0.05), ATP-linked OCR (P<0.05) and the maximum OCR (P<0.05) have all reduced to some extent compared with the controls.</p><p><b>CONCLUSION</b>These results showed that m.3635G>A, as a LHON-associated mutation, can lead to mitochondrial dysfunction.</p>