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
- 巻
- 313
- 号
- 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
- ID情報
-
- ISSN : 0006-291X
- PubMed ID : 14672715