Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic
Language English Country Czech Republic Media print
Document type Journal Article, Review
PubMed
28379029
DOI
10.33549/physiolres.933587
PII: 933587
Knihovny.cz E-resources
- MeSH
- Apolipoprotein B-100 genetics MeSH
- Genetic Variation genetics MeSH
- Genetic Background * MeSH
- Hyperlipoproteinemia Type II blood epidemiology genetics MeSH
- Cholesterol, LDL blood genetics MeSH
- Receptors, LDL genetics MeSH
- Humans MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
- Geographicals
- Czech Republic epidemiology MeSH
- Names of Substances
- APOB protein, human MeSH Browser
- Apolipoprotein B-100 MeSH
- Cholesterol, LDL MeSH
- Receptors, LDL MeSH
- LDLR protein, human MeSH Browser
Autosomal dominant hypercholesterolemia (ADH), more known as familial hypercholesterolemia (FH), is a lipid metabolism disorder characterized by an elevation in low-density lipoprotein cholesterol (LDL-C) and increased risk for cardiovascular disease. In this study, we assessed a spectrum of mutations causing ADH in 3914 unrelated Czech patients with clinical diagnosis of hypercholesterolemia. Samples have been collected within the framework of the MedPed project running in the Czech Republic since 1998. So far we have found 432 patients (11.0 %) with the APOB gene mutation p.(Arg3527Gln) and 864 patients (22.1 %) with the LDLR gene mutation. In 864 probands carrying the LDLR gene mutation, 182 unique allelic variants were detected. We have identified 14 patients homozygous for mutations in the LDLR or APOB genes. We performed function analyses of p.(Leu15Pro) and p.(Gly20Arg) sequence variations.
References provided by Crossref.org
LDLR gene rearrangements in Czech FH patients likely arise from one mutational event
