論文

国際誌
2004年1月2日

Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.

Biochemical and biophysical research communications
  • Takeharu Hayashi
  • Takuro Arimura
  • Kazuo Ueda
  • Hiroki Shibata
  • Shigeru Hohda
  • Megumi Takahashi
  • Hisae Hori
  • Yoshinori Koga
  • Naoki Oka
  • Tsutomu Imaizumi
  • Michio Yasunami
  • Akinori Kimura
  • 全て表示

313
1
開始ページ
178
終了ページ
84
記述言語
英語
掲載種別
研究論文(学術雑誌)

Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are caused by mutations in 14 and 15 different disease genes, respectively, in a part of the patients and the disease genes for cardiomyopathy overlap in part with that for limb-girdle muscular dystrophy (LGMD). In this study, we examined an LGMD gene encoding caveolin-3 (CAV3) for mutation in the patients with HCM or DCM. A Thr63Ser mutation was identified in a sibling case of HCM. Because the mutation was found at the residue that is involved in the LGMD-causing mutations, we investigate the functional change due to the Thr63Ser mutation as compared with the LGMD mutations by examining the distribution of GFP-tagged CAV3 proteins. It was observed that the Thr63Ser mutation reduced the cell surface expression of caveolin-3, albeit the change was mild as compared with the LGMD mutations. These observations suggest that HCM is a clinical spectrum of CAV3 mutations.

リンク情報
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/14672715
ID情報
  • ISSN : 0006-291X
  • PubMed ID : 14672715

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