title: Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy.
abstract: To investigate the association of mitochondrial DNA (mtDNA) haplogroups and Leber hereditary optic neuropathy (LHON) in the Southeast Asian population, mtDNA haplogroup determination was performed by high-resolution restriction fragment length polymorphism in 42 patients with LHON who were carrying the G11778A mutation and in control subjects drawn from a Thai urban population unaffected by LHON. The patients with LHON were of Thai, Thai-Chinese, and Indian origin. Three mtDNA haplogroups, M, B*, and B, were found in LHON patients in a frequency similar to that in control subjects. mtDNA haplogroup F was found in none of the patients with LHON but was the second most common haplogroup in control subjects. The G11778A mutation must have arisen in our population independently from the mutation in Caucasians. In contrast to Caucasians, no specific mtDNA haplotype was associated with the patients with LHON in the Southeast Asian population. The mitochondrial polymorphisms that modify the expression of LHON in Southeast Asians could not be identified in this study. The lack of haplogroup F in our patients with LHON may indicate the protective effect of this haplogroup in the expression of this disorder.
authors.affiliation: Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkoknoi, Bangkok, Thailand.
authors.forename: Pattamon
authors.initials: P
authors.lastname: Tharaphan
authors.forename: Wanicha L
authors.initials: WL
authors.lastname: Chuenkongkaew
authors.forename: Komon
authors.initials: K
authors.lastname: Luangtrakool
authors.forename: Thitima
authors.initials: T
authors.lastname: Sanpachudayan
authors.forename: Bhoom
authors.initials: B
authors.lastname: Suktitipat
authors.forename: Rungnapa
authors.initials: R
authors.lastname: Suphavilai
authors.forename: Chatchawan
authors.initials: C
authors.lastname: Srisawat
authors.forename: Thanyachai
authors.initials: T
authors.lastname: Sura
authors.forename: Patcharee
authors.initials: P
authors.lastname: Lertrit
mesh_terms: D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006239:Haplotypes; D006801:Humans; D007194:India / Q000208:ethnology; D009154:Mutation / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000208:ethnology / Q000235:genetics*; D009900:Optic Nerve / Q000473:pathology / Q000503:physiopathology*; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D013785:Thailand / Q000453:epidemiology
chemical_list: D004272:DNA, Mitochondrial