CICKb mutation as a diagnostic and therapeutical target

Details CICKb mutation as a diagnostic and therapeutical target CICKb mutation as a diagnostic and therapeutical target

2007-06-26

2007-06-26

Carlson, Karen Cochrane (Department: 1656)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

Reexamination Certificate

active

11398208

ABSTRACT:
The present invention relates to a method for diagnosing hypertension, and/or allergy, and/or hair loss, and/or liabilty for infection, of a human being, or a predisposition therefor; to a nucleic acid molecule coding for a human ClCKb protein comprising a genetic alteration at amino acid position481compared to the wild type, as well as for corresponding segments thereof; to a nucleic acid molecule which binds to the before-mentioned nucleic acid molecule under stringent conditions, as well as to a nucleic acid molecule which binds to that nucleic acid molecule; to a (poly)peptide encoded by the afore-mentioned nucleic acid molecules; to a method for identifying substances modulating activity of a peptide derived from ClCKb protein that is genetically altered at amino acid position481compared to the wild type; to a substance for modulating activity of a peptide derived from ClCKb protein that is genetically altered at amino acid position481compared to the wild type; to methods for preparing a pharmaceutical composition for treatment of hypertension, and/or allergy, and/or hair loss, and/or liability for infection; to pharmaceutical compositions; and to a method for treating a human being affected by hypertension, and/or allergy and/or hair loss, and/or liability for infection.

REFERENCES:
patent: WO 99/16909 (1999-04-01), None
patent: WO 01/73128 (2001-10-01), None
Jeck et al. 2004; Activating mutation of the renal epithelial chloride channel CIC-Kb predisposing to hypertension. Hypertension 43: 1175-1181.
Speirs et al. 2005; No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36. Journal of Hypertension 23: 1491-1496.
Jeck, N. et al. (2003) “Functional importance of CLCNKB genetics variants”Pediatric Nephrology, 18:13C.
Jeck, N. et al. (2003) “A common sequence variation of the CLCNKB gene strongly activates CLC-KB chloride channel activity (W22)”Nephrology Dialysis TransplantationOxford 18:555.
Kieferle, S. et al. (1994) “Two highly homologous members of the CIC chloride channel family in both rat and human kidney”PNAS USA91:6943-6947.
Konrad, M. et al. (2000) “Mutations in the chloride channel gene CICNKb as a cause of classic barter syndrome”J. Am. Soc. Nephrol. 11:1449-1459.
Simon, D.B. et al. (1999) “Homo sapienschloride channel Kb (CLCNKB) mRNA” Database Genebank (1999) ″Online! NCBI: XP002314410.
Simon, D.B. et al. (1997) “Mutations in the chloride channel gene, CICNKb, cause bartter's syndrome type III”Nature Genetics17:171-178.
International Search Report from co-pending application PCT/EP2004/011192.
Written Opinion from co-pending application PCT/EP2004/011192.

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