Molecular analyses of Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS)

Masashi Aoki, Koji Abe, Masahito Ogasawara, Yoko Aoki, Yoichi Matsubara, Kuniaki Narisawa, Mitsunori Watanabe, Masaki Ikeda, Kouji Houi, Soichiro Mocfflo, Katsuro Kurokawa, Takeo Kato, Hideo Sasaki, Ryo Sakuma, Takeshi Kameya, Shyozo Nakamura, Yasuto Itoyama

Research output: Contribution to journalArticle

Abstract

Amyotrophic lateral sclerosis (ALS) is a degenerative disorder characterized by selective damage to the neural system that mediates voluntary movement. Death usually occurs within a few years of onset. Although the pathophysiologic process of ALS remains unknown, about 5 to 10% of cases are familial. We recently identified five different mutations in six familial ALS (FALS) families. The mutations identified in our FALS families are H46R, L84V, I104F, S134N, V148I. The enzymatic activities of Cu/Zn SOD of erythrocyte or skin fibroblasts were significantly reduced in the all affected patients. These mutations account for fifty percent of all FALS families screened, although Cu/Zn SOD mutations are responsible for less than twenty percent in Western population. Our results indicate that the progression of the disease with Cu/Zn SOD mutations is usually related to each mutation.

Original languageEnglish
Number of pages1
JournalJapanese Journal of Human Genetics
Volume41
Issue number1
Publication statusPublished - Dec 1 1996
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)

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  • Cite this

    Aoki, M., Abe, K., Ogasawara, M., Aoki, Y., Matsubara, Y., Narisawa, K., Watanabe, M., Ikeda, M., Houi, K., Mocfflo, S., Kurokawa, K., Kato, T., Sasaki, H., Sakuma, R., Kameya, T., Nakamura, S., & Itoyama, Y. (1996). Molecular analyses of Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS). Japanese Journal of Human Genetics, 41(1).