Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B12-responsive methylmalonic acidemia: Identification of a prevalent MMAA mutation

Xue Yang, Osamu Sakamoto, Yoichi Matsubara, Shigeo Kure, Yoichi Suzuki, Yoko Aoki, Yasuyuki Suzuki, Nobuo Sakura, Masaki Takayanagi, Kazuie Iinuma, Toshihiro Ohura

研究成果: Article査読

26 被引用数 (Scopus)

抄録

Methylmalonic acidemia (MMA) is caused by the deficient activity of L-methylmalonyl-CoA mutase, which is a vitamin B12 (or cobalamin, Cbl)-dependent enzyme. MMA due to the effect of insufficient Cbl metabolism is classified into three forms (cblA, cblB, and cblH). Recently, the genes responsible for cblA and cblB were identified as MMAA and MMAB, respectively. The MMAA protein likely transports Cbl into the mitochondria for adenosylcobalamin synthesis, while the MMAB protein appears to be an adenosyltransferase. We performed a mutation analysis of 10 unrelated Japanese patients with vitamin B12-responsive MMA. Seven patients had mutations in MMAA, whereas the other three patients showed no disease-causing substitutions in either MMAA or MMAB. Five novel mutations were identified in MMAA (R22X, R145X, L217X, R359G, and 503delC). The 503delC mutation was observed in five of the seven MMAA patients, suggesting that the mutation is prevalent in Japanese patients. This finding may facilitate the DNA diagnosis of vitamin B12-responsive MMA within the Japanese population.

本文言語English
ページ(範囲)329-333
ページ数5
ジャーナルMolecular Genetics and Metabolism
82
4
DOI
出版ステータスPublished - 2004 8

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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