[Genetic factors of the development of dilated cardiomyopathy].
The authors analyzed studies dedicated to hereditary factors of the development of dilated cardiomyopathy (DC). According to present-day views, idiopathic DC is a multifactor disease with a strong genetic component. There are familial and non-familial (sporadic) forms of idiopathic DC. Most of familial forms are inherited as autosomal dominant diseases, although autosomal recessive, X-linked, and mitochondrial forms are known as well. The genes involved in the development of DC may be subdivided into three groups: the genes encoding various structural proteins (sacromeric, cytosceletal, and nuclear envelope proteins), the genes encoding transcriptional factors, and modifier genes, which encode proteins which participate in signaling transduction, DNA reparation, and regulation of metabolism and ionic homeostasis. Mutations in the genes of structural proteins (sacromeric, cytosceletal, and nuclear envelope proteins) in most cases impair transmission of the force generated by cardiomyocytes, results in damage of intercellular structure and intercellular contacts, which, in turn, causes cardiomyocyte apoptosis and their significant elimination from ventricular myocardium. Cardiomyocyte apoptosis can be intensified as a result of changes in signaling transduction (modifications of the expression of some receptors), ionic homeostasis, intensity of metabolic reactions, and due to cardiomyocyte compensatory hypertrophy, which is characterized by expression of some embryonic genes. Similar molecular-cellular events lead to dilated heart remodeling.
Lushnikova
E L
EL
Nepomniashchikh
L M
LM
D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008929:Mitochondria, Heart / Q000235:genetics / Q000473:pathology; D017354:Point Mutation / Q000235:genetics; D016596:Vinculin / Q000235:genetics
C103334:metavinculin; D016596:Vinculin