Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.

doi:10.1016/j.atherosclerosis.2012.04.006

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Article

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.

Atherosclerosis - 1 Aug 2012

Abifadel Marianne, Guerin Maryse, Benjannet Suzanne, Rabès Jean-Pierre, Le Goff Wilfried, Julia Zélie, Hamelin Josée, Carreau Valérie, Varret Mathilde, Bruckert Eric, Tosolini Laurent, Meilhac Olivier, Couvert Philippe, Bonnefont-Rousselot Dominique, Chapman John, Carrié Alain, Michel Jean-Baptiste, Prat Annik, Seidah Nabil G, Boileau Catherine

Abstract excerpt

BACKGROUND: The identification of mutations in PCSK9 (proprotein convertase subtilisin kexin9) in autosomal dominant hypercholesterolemia (ADH), has revealed the existence of a new player in cholesterol homeostasis. PCSK9 has been shown to enhance the degradation of the LDL receptor (LDLR) at the cell surface. Gain-of-function mutations of PCSK9 induce ADH and are very rare, but their identification is crucial in...

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PMID: 22683120
DOI: 10.1016/j.atherosclerosis.2012.04.006

Genes

PCSK9
LDLR
APOB

Variants

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