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

T Hayashi, T Arimura, K Ueda, H Shibata… - Biochemical and …, 2004 - Elsevier
T Hayashi, T Arimura, K Ueda, H Shibata, S Hohda, M Takahashi, H Hori, Y Koga, N Oka…
Biochemical and biophysical research communications, 2004Elsevier
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 …
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.
Elsevier