Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia

Tomoki Nishioka, Mamoru Tasaki, Augustinus Soemantri, Marbaniati Dyat, J. C. Susanto, Moedrik Tamam, Bambang Sudarmanto, Takafumi Ishida

研究成果: Article査読

12 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)385-389
ページ数5
ジャーナルJournal of Human Genetics
48
7
DOI
出版ステータスPublished - 2003
外部発表はい

All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)

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