The role of MT-ND1 m.3635G>A mutation in Leber's hereditary optic neuropathy.
- Author:
Juanjuan ZHANG
1
;
Zengjun ZHANG
;
Runing FU
;
Yanchun JI
;
Pingping JIANG
;
Yi TONG
;
Jia QU
;
Minxin GUAN
Author Information
- Publication Type:Journal Article
- MeSH: Adenosine Triphosphate; genetics; Asian Continental Ancestry Group; genetics; Female; Humans; Male; Mitochondria; genetics; Mutation; genetics; NADH Dehydrogenase; genetics; Optic Atrophy, Hereditary, Leber; genetics; Pedigree
- From: Chinese Journal of Medical Genetics 2016;33(6):747-751
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the role of MT-ND1 m.3635G>A mutation in the pathogenesis of Leber's hereditary optic neuropathy (LHON).
METHODSBiochemical 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.
RESULTSComparison 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.
CONCLUSIONThese results showed that m.3635G>A, as a LHON-associated mutation, can lead to mitochondrial dysfunction.
