Open AccessPhenotype receptor gene mutations in low-density lipoprotein in patients with familial hypercholesterolemia in Karelia
Author(s) -
В. А. Корнева,
Корнева Виктория Алексеевна,
T. Yu. Bogoslovskaya,
Богословская Татьяна Юрьевна,
T. Kuznetsova,
Кузнецова Татьяна Юрьевна,
M. Yu. Mandelshtam,
Мандельштам Михаил Юрьевич,
В. Б. Васильев,
Васильев Вадим Борисович
Publication year - 2015
Publication title -
cardiosomatika
Language(s) - English
Resource type - Journals
eISSN - 2658-5707
pISSN - 2221-7185
DOI - 10.26442/cs45144
Subject(s) - familial hypercholesterolemia , ldl receptor , exon , single strand conformation polymorphism , phenotype , genetics , lipoprotein , mutation , medicine , gene , asymptomatic , biology , cholesterol
Familial hypercholesterolemia (FHC) - hereditary dyslipidemia, which is based on mutations in the gene for low-density lipoprotein receptor.However, there is variability in the clinical manifestations of the disease difficult to assess individual risk.Materials and methods. Under our supervision for 10 years were 109 patients with FHC, 17 mutation in the receptor density lipoprotein. FHC diagnosis established by the criteria of the British leadership Simon Broom. To search for mutations in low-density lipoprotein receptor was performed automated fluorescent SSCP-analysis of exons of the gene analysis of restriction fragment length polymorphism and the direct sequencing of DNA on a gel sequencer ALFExpress-2 (Amersham Biosciences) using the program ALFwin Sequence Analyzer.The Results. We analyzed five clinical cases of patients with genetically confirmed diagnosis of FHC. Shows a wide phenotypic variability FHC: the possibility of early debut of coronary heart disease, coronary tropism for the pool some patients and cerebral - others, the possibility of a long asymptomatic disease.Conclusion. The absence of clinical manifestations of atherosclerosis and wide phenotypic variability at FHC require targeted screening for FHC, at least among patients with coronary heart disease in order to timely and adequate preventive measures, especially in cases where the mutation is set low density lipoprotein receptor.