Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Veranlagung für hohes LDL-Cholesterin

Die Veranlagung für hohe LDL-Cholesterinwerte kann vererbt werden. Unter anderem ist dafür das Gen HMGCR verantwortlich.

Gliederung

Hypercholesterinämie
Autosomal dominante Hypercholesterinämie 1
Autosomal dominante Hypercholesterinämie 2
Autosomal dominante Hypercholesterinämie 3
Autosomal rezessive Hypercholesterinämie
Lp(a) Hyperlipoproteinämie
Veranlagung für hohes LDL-Cholesterin
HMGCR

Referenzen:

1.

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

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2.

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

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3.

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).

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4.

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.

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5.

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

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6.

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

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7.

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.

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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.

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13.

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

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14.

None (2004) Genetic polymorphisms and statin therapy.

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15.

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

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16.

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

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17.

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

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