Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipo...

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Bibliographic Details
Published in:Nature genetics Vol. 34; no. 2; pp. 154 - 156
Main Authors: Moulin, Philippe, Wickham, Louise, Bruckert, Eric, Lecerf, Jean-Michel, Krempf, Michel, Varret, Mathilde, Chambaz, Jean, Allard, Delphine, Derré, Aurélie, Rabès, Jean-Pierre, Villéger, Ludovic, Junien, Claudine, Erlich, Danièle, Beucler, Isabel, Cruaud, Corinne, Benjannet, Suzanne, Farnier, Michel, Ouguerram, Khadija, Devillers, Martine, Boileau, Catherine, Luc, Gerald, Weissenbach, Jean, Abifadel, Marianne, Prat, Annick, Chanu, Bernard, Seidah, Nabil G
Format: Journal Article
Language:English
Published: London Nature Publishing Group 01-06-2003
Subjects:
Amino Acid Substitution
Biological and medical sciences
Cardiovascular disease
Cardiovascular diseases
Cholesterol
Chromosomes, Human, Pair 1 - genetics
Complications and side effects
Diagnosis
Female
Fundamental and applied biological sciences. Psychology
Gene mutations
Genes, Dominant
Genetic aspects
Genetic Linkage
Haplotypes
Homeostasis
Humans
Hypercholesterolemia
Hyperlipoproteinemia Type II - enzymology
Hyperlipoproteinemia Type II - genetics
Liver - enzymology
Male
Molecular and cellular biology
Mutation
Pedigree
Proprotein Convertase 9
Proprotein Convertases
Risk factors
Serine Endopeptidases - genetics
France
Canada
Montreal Quebec Canada
Paris France
Genetics
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Summary:Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipoprotein B). We mapped a third locus associated with ADH, HCHOLA3 at 1p32, and now report two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH. PCSK9 encodes NARC-1 (neural apoptosis regulated convertase), a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis.
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ISSN:1061-4036
1546-1718
DOI:10.1038/ng1161