Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Soufi, M; Sattler, AM; Maerz, W; Starke, A; Herzum, M; Maisch, B; Schaefer, JR.
A new but frequent mutation of apoB-100-apoB His3543Tyr.
Atherosclerosis. 2004; 174(1):11-16
Doi: 10.1016/j.atherosclerosis.2003.12.021
Web of Science
PubMed
FullText
FullText_MUG
- Co-Autor*innen der Med Uni Graz
- März Winfried
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- Abstract:
- ApolipoproteinB 100 (apoB-100) is an important component of atherogenic lipoproteins such as LDL and serves as a ligand for the LDL-receptor. Familial defective apolipoproteinB 100 (FDB) is caused by a R3500Q mutation of the apoB gene and results in decreased binding of LDL to the LDL-receptor. So far FDB is the most frequent and best studied alteration of apoB-100. Apart from this, three other apoB mutations, R3500W, R3531C and R3480W, affecting binding to the LDL-receptor are known to date. We screened the apoB gene segment of codons 3448-3561 by denaturing gradient gel electrophoresis (DGGE) analysis in a total of 853 consecutively sampled German patients undergoing diagnostic coronary angiography for suspected CAD. By this, a new single base mutation was detected and confirmed by DNA sequencing. The mutation, CAC(3543)TAC results in a His3543Tyr substitution in apoB-100 (H3543Y). The prevalence of heterozygotes for H3543Y in the study population was 0.47% compared to 0.12% for the known Arg 3500 Gln (R3500Q) mutation. In conclusion, the new mutation is four times more frequent than "classical" FDB and thus appears to be the most common apoB mutation in Germany.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Aged -
- Apolipoprotein B-100 -
- Apolipoproteins B - analysis
- Austria - epidemiology
- Base Sequence - epidemiology
- Cohort Studies - epidemiology
- Female - epidemiology
- Genetics, Population - epidemiology
- Germany - epidemiology
- Humans - epidemiology
- Hyperlipoproteinemia Type II - diagnosis
- Incidence - diagnosis
- Male - diagnosis
- Middle Aged - diagnosis
- Molecular Sequence Data - diagnosis
- Mutation - diagnosis
- Polymerase Chain Reaction - diagnosis
- Polymorphism, Restriction Fragment Length - diagnosis
- Variation (Genetics) - diagnosis
- Find related publications in this database (Keywords)
- familial defective apoB
- apoB-100 mutation
- apoB-100 R3500Q
- apoB-100 H3543Y
- hyperlipidemia
- atherosclerosis