Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

PCSK9-Gen

Das PCSK9-Gen kodiert ein Protein, welches für die Regulation der LDL-Rezeptoraktivität mitverantwortlich ist. Mutationen verursachen eine autosomal dominante Form der familiären Hypercholesterinämie.

Genstruktur

Das Protein, welches durch das PCSK9-Gen kodiert wird spielt eine wichtige Rolle bei der Regulation des LDL-Rezeptors auf der Oberfläche von Hepatozyten. Mutationen führen zur autosomal dominanten Hypercholesterinämie vom Typ 3.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Autosomal dominante Hypercholesterinämie 3
PCSK9
Kombinierte familiäre Hyperlipämie mit gestörter LDL-Clearance
ATF6
LDLR
PCSK9

Referenzen:

1.

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

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2.

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

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3.

Varret M et al. (1999) A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.

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4.

Hunt SC et al. (2000) Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred.

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5.

Seidah NG et al. (2003) The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation.

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6.

Abifadel M et al. (2003) Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.

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7.

Shioji K et al. (2004) Genetic variants in PCSK9 affect the cholesterol level in Japanese.

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8.

Timms KM et al. (2004) A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree.

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9.

Maxwell KN et al. (2004) Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype.

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10.

Ouguerram K et al. (2004) Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.

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11.

Park SW et al. (2004) Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver.

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12.

Cohen J et al. (2005) Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

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13.

Maxwell KN et al. (2005) Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment.

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14.

Sun XM et al. (2005) Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia.

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15.

Rashid S et al. (2005) Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9.

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16.

Kotowski IK et al. (2006) A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

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17.

Cohen JC et. al. (2006) Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.

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18.

Lambert G et. al. (2006) Fasting induces hyperlipidemia in mice overexpressing proprotein convertase subtilisin kexin type 9: lack of modulation of very-low-density lipoprotein hepatic output by the low-density lipoprotein receptor.

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19.

Zhao Z et. al. (2006) Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

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20.

Benjannet S et. al. (2006) The proprotein convertase (PC) PCSK9 is inactivated by furin and/or PC5/6A: functional consequences of natural mutations and post-translational modifications.

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21.

Mayne J et. al. (2007) Plasma PCSK9 levels correlate with cholesterol in men but not in women.

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22.

Kwon HJ et. al. (2008) Molecular basis for LDL receptor recognition by PCSK9.

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23.

Schmidt RJ et. al. (2008) Secreted proprotein convertase subtilisin/kexin type 9 reduces both hepatic and extrahepatic low-density lipoprotein receptors in vivo.

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24.

Kathiresan S et. al. (2008) A PCSK9 missense variant associated with a reduced risk of early-onset myocardial infarction.

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