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WYBRANE
PROBLEMY
KLINICZNE
WSTĘP
Choroby układu krążenia (CVD,
cardiova-
scular diseases
) to obecnie jedna z dwóch
głównych przyczyn umieralności na świecie.
Według danych Światowej Organizacji
Zdrowia (WHO,
WorldHealthOrganization
)
co roku z powodu CVD umiera ponad 17,3
miliona osób.
minująco. Kardiomiopatia rozstrzeniowa (DCM) jest powodowana przez pojedyncze mu-
tacje punktowe w obrębie genów dla białek aparatu kurczliwego kardiomiocytu.
ForumMedycyny Rodzinnej 2012, tom 6, nr 1, 1–13
słowa kluczowe: polimorfizm, niewydolność sera, geny, mutacje
ABSTRACT
Recent developments in molecular biology makes it possible to assess the participa-
tion of genetic factors in the pathogenesis of cardiovascular diseases through precise
study of the structure and function of genes. The present paper reviews current know-
ledge on the genetic determinants of cardiovascular diseases, with particular referen-
ce to the coronary heart disease and hypertension.
Polymorphisms in genes responsible for the functioning of the circulatory system may
have a significant influence on the development of the ischaemic heart disease (IHD).
IHD is associated with multiple genetic factors. Genes that regulate lipid metabolism
may have a direct influence on the development of IHD. The insertion/deletion (I/D) po-
lymorphism of the angiotensin convertase (ACE)-coding gene may significantly affect
the development of the ischaemic heart disease. On the other hand, platelet aggrega-
tion, formation of atherosclerotic lesions and the process of coagulation is associated
with the glycoprotein GPIIIa polymorphism.
The pathogenesis of hypertension is polygenic in its character. Mutations occurring in
the 11ß-HSD2 gene may lead to loss of activity of the 11ß-hydroxysteroid dehydroge-
nase type 2 enzyme (11ß-HSD2). The development of hypertension may also be cau-
sed by mutations of mineralocorticoid receptor (MR). At the same time, abnormalities
in the fibroblast growth factor type 1 (FGF1) gene may lead to genetically-related hy-
pertension. Angiotestinogen (ATG) gene mutations cause changes in the angiotensi-
nogen polypeptide chain. The appearance of a chimeric gene (CYP11B1/B2) leads to
the development of genetically-related type I hyperaldosteroism (GRA syndrome). The
genetically-related type I hyperaldosteroism may induce susceptibility to hemorrha-
gic cerebral stroke and exacerbate hypertension in pregnancy. The ACE gene polymor-
phism may be of the insertion/deletion type, which in turn may lead to hypertension.
The Gordon syndrome, manifested by the presence of hypertension with hyperkaliaemia,
is subject to autosomal dominant inheritance.
Cardiomyopathies constitute a heterogeneous group of heart diseases which may be
gene-related. Here belong autosomal dominant-inherited hypertrophic cardiomyopa-
thy (HCM) and dilated cardiomyopathy (DCM) caused by single point mutation in the
genes for proteins of cardiomyocyte contractile apparatus.
Forum Medycyny Rodzinnej 2012, vol 6, no 1, 1–13
key words: polymorphism, heart failure, genes, mutations