Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
M Abifadel, M Varret, JP Rabès, D Allard… - Nature …, 2003 - nature.com
M Abifadel, M Varret, JP Rabès, D Allard, K Ouguerram, M Devillers, C Cruaud, S Benjannet…
Nature genetics, 2003•nature.comAutosomal 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 …
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 …
Abstract
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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