[Genetic factors of the development of dilated cardiomyopathy]. 2006

E L Lushnikova, and L M Nepomniashchikh

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.

UI MeSH Term Description Entries
D008929 Mitochondria, Heart The mitochondria of the myocardium. Heart Mitochondria,Myocardial Mitochondria,Mitochondrion, Heart,Heart Mitochondrion,Mitochondria, Myocardial
D002311 Cardiomyopathy, Dilated A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein. Cardiomyopathy, Congestive,Congestive Cardiomyopathy,Dilated Cardiomyopathy,Cardiomyopathy, Dilated, 1a,Cardiomyopathy, Dilated, Autosomal Recessive,Cardiomyopathy, Dilated, CMD1A,Cardiomyopathy, Dilated, LMNA,Cardiomyopathy, Dilated, With Conduction Defect 1,Cardiomyopathy, Dilated, with Conduction Deffect1,Cardiomyopathy, Familial Idiopathic,Cardiomyopathy, Idiopathic Dilated,Cardiomyopathies, Congestive,Cardiomyopathies, Dilated,Cardiomyopathies, Familial Idiopathic,Cardiomyopathies, Idiopathic Dilated,Congestive Cardiomyopathies,Dilated Cardiomyopathies,Dilated Cardiomyopathies, Idiopathic,Dilated Cardiomyopathy, Idiopathic,Familial Idiopathic Cardiomyopathies,Familial Idiopathic Cardiomyopathy,Idiopathic Cardiomyopathies, Familial,Idiopathic Cardiomyopathy, Familial,Idiopathic Dilated Cardiomyopathies,Idiopathic Dilated Cardiomyopathy
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016596 Vinculin A cytoskeletal protein associated with cell-cell and cell-matrix interactions. The amino acid sequence of human vinculin has been determined. The protein consists of 1066 amino acid residues and its gene has been assigned to chromosome 10. alpha-Vinculin,beta-Vinculin,Isovinculin,alpha Vinculin,beta Vinculin
D017354 Point Mutation A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. Mutation, Point,Mutations, Point,Point Mutations

Related Publications

E L Lushnikova, and L M Nepomniashchikh
July 1996, Archives des maladies du coeur et des vaisseaux,
E L Lushnikova, and L M Nepomniashchikh
January 2011, Circulation journal : official journal of the Japanese Circulation Society,
E L Lushnikova, and L M Nepomniashchikh
September 2023, Structural heart : the journal of the Heart Team,
E L Lushnikova, and L M Nepomniashchikh
January 2011, Circulation journal : official journal of the Japanese Circulation Society,
E L Lushnikova, and L M Nepomniashchikh
July 2013, Current cardiology reports,
E L Lushnikova, and L M Nepomniashchikh
December 2016, International journal of cardiology,
E L Lushnikova, and L M Nepomniashchikh
December 2016, Heart (British Cardiac Society),
E L Lushnikova, and L M Nepomniashchikh
March 2017, Journal of cardiovascular medicine (Hagerstown, Md.),
E L Lushnikova, and L M Nepomniashchikh
December 2014, Progress in pediatric cardiology,
E L Lushnikova, and L M Nepomniashchikh
January 2021, Frontiers in cardiovascular medicine,
Copied contents to your clipboard!