Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Reexamination Certificate
2007-11-27
2007-11-27
Myers, Carla (Department: 1634)
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
C435S091200, C536S023500, C536S024310
Reexamination Certificate
active
10830454
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.
REFERENCES:
patent: WO 01/57081 (2001-08-01), None
NCBI SNP Database, National Center for Biotechnology Information, National Library of Medicine, NIH (Bethesda, MD, USA). SNP printout for the PCSK9 gene.
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Abifadel et al, Mutations in PCSK9 cause autosomal dominant hypercholesterolemia, Nature Genetics, Jun. 2003, vol. 34, No. 2 , pp. 154-156.
Varret et al, A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32, Am. J. Hum. Genet., 1999, 64:1378-1387.
Varret et al, Software and database for the analysis of mutations in the human LDL receptor gene, Nucleic Acids Research, 1997, vol. 25, No.1, pp 172-180.
Abi Fadel Marianne
Boileau Catherine
Rabes Jean-Pierre
Seidah Nabil G.
Varret Mathilde
Institut National de la Sante et de la Recherche Medicale
Myers Carla
Nixon & Vanderhye P.C.
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