title: [The role of MT-ND1 m.3635G>A mutation in Leber's hereditary optic neuropathy].
abstract: OBJECTIVE
  To investigate the role of MT-ND1 m.3635G>A mutation in the pathogenesis of Leber's hereditary optic neuropathy (LHON).
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  These results showed that m.3635G>A, as a LHON-associated mutation, can lead to mitochondrial dysfunction.
authors.affiliation: School of Ophthalmology & Optometry, The Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang 325027, China. gminxin88@zju.edu.cn.
authors.forename: Juanjuan
authors.initials: J
authors.lastname: Zhang
authors.forename: Zengjun
authors.initials: Z
authors.lastname: Zhang
authors.forename: Runing
authors.initials: R
authors.lastname: Fu
authors.forename: Yanchun
authors.initials: Y
authors.lastname: Ji
authors.forename: Pingping
authors.initials: P
authors.lastname: Jiang
authors.forename: Yi
authors.initials: Y
authors.lastname: Tong
authors.forename: Jia
authors.initials: J
authors.lastname: Qu
authors.forename: Minxin
authors.initials: M
authors.lastname: Guan
mesh_terms: D000255:Adenosine Triphosphate / Q000235:genetics; D044466:Asian People / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009245:NADH Dehydrogenase / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010375:Pedigree
chemical_list: D000255:Adenosine Triphosphate; D009245:NADH Dehydrogenase; C515075:NADH dehydrogenase subunit 1, human