The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Nov. 27, 2007
Filed:
Apr. 23, 2004
Marianne Abi Fadel, Broummana, LB;
Catherine Boileau, Paris, FR;
Jean-pierre Rabes, Sevres, FR;
Nabil G. Seidah, Québec, CA;
Mathilde Varret, Chatillon, FR;
Marianne Abi Fadel, Broummana, LB;
Catherine Boileau, Paris, FR;
Jean-Pierre Rabes, Sevres, FR;
Nabil G. Seidah, Québec, CA;
Mathilde Varret, Chatillon, FR;
Institut National de la Sante et de la Recherche Medicale, Paris Cedex, FR;
Abstract
The present invention discloses the identification of a human hypercholesterolemia causal gene, which can be used for the diagnosis, prevention and treatment of hypercholesterolemia, more particularly familial hypercholesterolemia, as well as for the screening of therapeutically active drugs. The invention more specifically disclosed that mutations in the PCSK9 gene encoding NARC-1 causes autosomal dominant hypercholesterolemia and represent novel targets for therapeutic intervention. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of coronary heart disease and, cholesterol, lipid and lipoprotein metabolism disorders, including familial hypercholesterolemia, atherogenic dyslipidemia, atherosclerosis, cardiovascular diseases.