Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese

Aritoshi Iida, Naoya Hosono, Motoki Sano, Tetsumasa Kamei, Shuichi Oshima, Torao Tokuda, Masahiro Nakajima, Michiaki Kubo, Yusuke Nakamura, Shiro Ikegawa

研究成果: Article査読

32 被引用数 (Scopus)

抄録

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by selective motor neuron death in the brain and spinal cord. Many disease genes for ALS have been identified; however, each disease gene is responsible for very small fractions of ALS. Recently, mutations of the gene encoding optineurin (. OPTN) are reported in familial and sporadic ALS. . OPTN is also responsible for a small number of ALS, 3.8% of familial and 0.29% of sporadic ALS in Japanese. The low prevalence may be an underestimation due to incomplete screening of the mutation. To examine . OPTN mutations more extensively, we screened the . OPTN deletions using a quantitative PCR system. We examined 710 Japanese ALS subjects who had previously been found to have no . OPTN mutations by a screening using a PCR-direct sequence strategy. We identified 3 kinds of deletions in 5 patients; one was homozygous, and the remaining were heterozygous. All deletions occurred due to the Alu-mediated recombination and are expected to result in null alleles. Our results suggest that the . OPTN deletion mutation in ALS is not infrequent and the prevalence of the . OPTN mutation in Japanese sporadic ALS is considerably high.

本文言語English
ページ(範囲)1843.e19-1843.e24
ジャーナルNeurobiology of Aging
33
8
DOI
出版ステータスPublished - 08-2012
外部発表はい

All Science Journal Classification (ASJC) codes

  • 神経科学(全般)
  • 加齢科学
  • 発生生物学
  • 臨床神経学
  • 老年医学

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