title: [Identification of mitochondrial DNA ND1 T3866C mutation in three ethnic Han Chinese families affected with Leber's hereditary optic neuropathy].
abstract: OBJECTIVE
  To report on the clinical, genetic and molecular characteristics of three ethnic Han Chinese families affected with Leber's hereditary optic neuropathy (LHON).
  
  
  METHODS
  The three families were all diagnosed with LHON. Ophthalmologic examinations were conducted on the probands . The ND1, ND4 and ND6 genes of the mitochondrial DNA (mtDNA) were amplified with PCR respectively for the screening of three primary mutations G3460A, G11778A and T14484C. The entire mtDNA of the probands were also amplified by PCR.
  
  
  RESULTS
  Analysis of mtDNA in the three pedigrees has failed to find the presence of the three LHON associated mutations but presence of a homoplastic ND1 T3866C mutation in all probands and their matrilineal relatives . The probands had different levels of visual impairment. The penetrance in the three families has been calculated as 12.5%, 11.1% and 33.3%, respectively. The T3866C mutation has resulted in replacement of isoleucine at position 187 with theronine. The isoleucine at position 187 is located at one of the transmembrane domains of ND1 polypeptide.
  
  
  CONCLUSIONS
  Above results have suggested that the ND1 T3866C mutation might have been involved in the pathogenesis of LHON in the three Chinese families studied.
authors: Giuseppe Attardi Institute of Mitochondrial Biomedicine, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, P.R. China. gminxin88@gmail.com.
authors: Sai
authors: S
authors: Zhang
authors: Min
authors: M
authors: Gao
authors: Zengjun
authors: Z
authors: Zhang
authors: Xiaoling
authors: X
authors: Liu
authors: Minxin
authors: M
authors: Guan
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D008969:Molecular Sequence Data; D009245:NADH Dehydrogenase / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation
chemical_list: D009245:NADH Dehydrogenase; C515075:NADH dehydrogenase subunit 1, human