Home Endocrine Regulations 2015 Endocrine Regulations Vol.49, No.3, p.164–181, 2015

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Quarterly, 50 pp. per issue 
Founded: 1967
ISSN 1210-0668
E-ISSN 1336-0329

Published in English

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Endocrine Regulations Vol.49, No.3, p.164–181, 2015

Title: Molecular-genetic aspects of familial hypercholesterolemia
Author: D. Gabcova-Balaziova, D. Stanikova, B. Vohnout, M. Huckova, J. Stanik, I. Klimes, K. Raslova, D. Gasperikova

Abstract: Abstract. Familial hypercholesterolemia (FH) is the world’s most abundant and the most common heritable disorder of lipid metabolism. The prevalence of the disease in general population is 1:500. Therefore the approximate number of FH patients all over the world is 14 million. From the genetic point of view the disease originates as a result of mutations in genes affecting the processing of LDL particles from circulation, resulting in an increase in LDL cholesterol and hence total cholesterol. These are mutations in genes encoding LDL receptor, apolipoprotein B, proprotein convertase subtilisin/kexin 9 and LDL receptor adaptor protein 1. Cholesterol depositing in tissues and blood vessels of individuals creates tendon xanthoma, xanthelesma and arcus lipoides cornae. Due to the increased deposition of cholesterol in blood vessels, atherosclerosis process is accelerated, what leads to a significantly higher risk of premature cardiovascular diseases. Therefore, early clinical diagnosis confirmed by the DNA analysis, and effective treatment are crucial to reduce the mortality and high risk of premature atherosclerotic complications.

Published online: 03-Aug-2015
Year: 2015, Volume: 49, Issue: 3 Page From: 164, Page To: 181
Price: 39.60 €

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