G. Cuda et al., SKELETAL-MUSCLE EXPRESSION AND ABNORMAL FUNCTION OF BETA-MYOSIN IN HYPERTROPHIC CARDIOMYOPATHY, The Journal of clinical investigation, 91(6), 1993, pp. 2861-2865
Hypertrophic cardiomyopathy is an important inherited disease. The phe
notype has been linked, in some kindreds, to the beta-myosin heavy cha
in (beta-MHC) gene. Missense and silent mutations in the beta-MHC gene
were used as markers to demonstrate the expression of mutant and norm
al cardiac beta-MHC gene message in skeletal muscle of hypertrophic ca
rdiomyopathy patients. Mutant beta-myosin, also shown to be present in
skeletal muscle by Western blot analysis, translocated actin filament
s slower than normal controls in an in vitro motility assay. Thus, sin
gle amino acid changes in beta-myosin result in abnormal actomyosin in
teractions, confirming the primary role of missense mutations in beta-
MHC gene in the etiology of hypertrophic cardiomyopathy.