title: Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia.
abstract: Leber's hereditary optic neuropathy (LHON) is a maternally inherited late-onset form of blindness characterized by acute or subacute bilateral retinal degradation resulting in a permanent loss of central vision. G11778A, C3460A, and T14484C mutations on mitochondrial DNA (mtDNA) are specific for LHON and account for most, but not all, worldwide LHON cases. A six-generation Indonesian LHON family with the T14484C mutation was analyzed. Polymerase chain reaction/restriction fragment length polymorphism analysis showed that all of the maternal lineages had the T14484C mutation in a homoplasmic form. Penetrance of the disease (33.3%) and male predominance (3:1) was similar to other worldwide LHON with the T14484C mutation. The incidence of offspring born to affected mothers was no different from that of unaffected mothers, and the age distribution of cases was no higher than that of asymptomatic carriers. Eight secondary mutations were sought but not detected. The patients of this family belonged to haplogroup M. These findings support the idea that the mtDNA backgrounds involved in the expression of LHON mutations in southeast Asians are different from those of Europeans.
authors.affiliation: Department of Biological Sciences, Graduate School of Science, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.
authors.forename: Tomoki
authors.initials: T
authors.lastname: Nishioka
authors.forename: Mamoru
authors.initials: M
authors.lastname: Tasaki
authors.forename: Augustinus
authors.initials: A
authors.lastname: Soemantri
authors.forename: Marbaniati
authors.initials: M
authors.lastname: Dyat
authors.forename: J C
authors.initials: JC
authors.lastname: Susanto
authors.forename: Moedrik
authors.initials: M
authors.lastname: Tamam
authors.forename: Bambang
authors.initials: B
authors.lastname: Sudarmanto
authors.forename: Takafumi
authors.initials: T
authors.lastname: Ishida
mesh_terms: D005192:Family Health; D005260:Female; D006239:Haplotypes; D006801:Humans; D007214:Indonesia; D008297:Male; D009035:Mothers; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011379:Prognosis; D012737:Sex Factors