Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Vermindete Cholesterinsenkung durch Statine

Die Veranlagung für eine verminderte Cholesterinsenkung durch Statine ist vererbt. Unter anderem ist dafür das Gen HMGCR verantwortlich.

Gliederung

Erbliche Fettstoffwechselerkrankungen
Dyslipidämie
Gestörte Regulatoren des Lipid- und Kohlenhydratstoffwechsels
Hepatischer CPT-Mangel Typ 1A
Meerblaue Histiozytenerkrankung
Statin-Intoleranz
Störung der Körperfettverteilung
Störungen der mRNA-Editiertfunktion
Tangier Erkrankung
Triglyceridspeicherkrankheit
Vermindete Cholesterinsenkung durch Statine
HMGCR
KIF6

Referenzen:

1.

Kathiresan S et al. (2008) Polymorphisms associated with cholesterol and risk of cardiovascular events.

external link
2.

Yu CY et al. (2014) HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism.

external link
3.

None (2004) Genetic polymorphisms and statin therapy.

external link
4.

Chasman DI et al. (2004) Pharmacogenetic study of statin therapy and cholesterol reduction.

external link
5.

Wang CY et al. (2003) Lovastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor, induces apoptosis and differentiation in human anaplastic thyroid carcinoma cells.

external link
6.

Sever N et al. (2003) Accelerated degradation of HMG CoA reductase mediated by binding of insig-1 to its sterol-sensing domain.

external link
7.

Istvan ES et al. (2001) Structural mechanism for statin inhibition of HMG-CoA reductase.

external link
8.

Van Doren M et al. (1998) HMG-CoA reductase guides migrating primordial germ cells.

external link
9.

Reynolds GA et al. (1984) HMG CoA reductase: a negatively regulated gene with unusual promoter and 5' untranslated regions.

external link
10.

Osborne TF et al. (1985) 5' end of HMG CoA reductase gene contains sequences responsible for cholesterol-mediated inhibition of transcription.

external link
11.

Mohandas T et al. (1986) Assignment of human 3-hydroxy-3-methylglutaryl coenzyme A reductase gene to q13----q23 region of chromosome 5.

external link
12.

None (1987) Conservation of promoter sequence but not complex intron splicing pattern in human and hamster genes for 3-hydroxy-3-methylglutaryl coenzyme A reductase.

external link
13.

Humphries SE et al. (1985) The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HMG-CoA reductase).

external link
14.

Goldstein JL et al. (1990) Regulation of the mevalonate pathway.

external link
15.

Aulchenko YS et al. (2009) Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

external link
16.

Lindgren V et al. (1985) Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes.

external link
17.

Teslovich TM et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids.

external link
18.

OMIM.ORG article

Omim 142910 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum