Title:
ASSESSING AND TREATING HUMANS WITH LONG QT SYNDROME
Document Type and Number:
WIPO Patent Application WO/2012/149406
Kind Code:
A3
Abstract:
This document provides methods and materials involved in assessing and treating humans with LQTS or with a potential mutation in a KCNQ1 nucleic acid that encodes a Kv7.1 potassium channel subunit. For example, methods and materials for determining if a human containing a mutation in a KCNQ1 nucleic acid that encodes a Kv7.1 potassium channel subunit on one allele also contains, on the same allele (a cis relationship) or on the other allele (a trans relationship), a genetic variation (e.g., a SNP) in a 3' UTR of KCNQ1 nucleic acid that creates a miR-378 binding site are provided.
Inventors:
ACKERMAN MICHAEL J (US)
GIUDICESSI JOHN R (US)
PINTO YIGAL MARTIN (NL)
AMIN AHMAD SHOAIB (NL)
TIJSEN ANKE JOHANNA MARINA (NL)
GIUDICESSI JOHN R (US)
PINTO YIGAL MARTIN (NL)
AMIN AHMAD SHOAIB (NL)
TIJSEN ANKE JOHANNA MARINA (NL)
Application Number:
PCT/US2012/035575
Publication Date:
January 17, 2013
Filing Date:
April 27, 2012
Export Citation:
Assignee:
MAYO FOUNDATION (US)
AMC AMSTERDAM (NL)
ACKERMAN MICHAEL J (US)
GIUDICESSI JOHN R (US)
PINTO YIGAL MARTIN (NL)
AMIN AHMAD SHOAIB (NL)
TIJSEN ANKE JOHANNA MARINA (NL)
AMC AMSTERDAM (NL)
ACKERMAN MICHAEL J (US)
GIUDICESSI JOHN R (US)
PINTO YIGAL MARTIN (NL)
AMIN AHMAD SHOAIB (NL)
TIJSEN ANKE JOHANNA MARINA (NL)
International Classes:
A61K48/00; A61K31/7088; A61K31/7105; A61K39/395; A61P25/00
Foreign References:
| US20050130190A1 | 2005-06-16 | |||
| US20090220949A1 | 2009-09-03 | |||
| US7179597B2 | 2007-02-20 | |||
| US20050142591A1 | 2005-06-30 |
Other References:
C. SUDANDIRADOSS ET AL.: "In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs)", GENOMIC MED., vol. 2, no. 3/4, 2008, pages 55 - 67
AHMAD S. AMIN ET AL.: "'Variants in the 3' untranslated region of the KCNQ1- encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner'", EUROPEAN HEART JOURNAL, vol. 33, no. 6, 23 December 2011 (2011-12-23), pages 714 - 723
AHMAD S. AMIN ET AL.: "'Variants in the 3' untranslated region of the KCNQ1- encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner'", EUROPEAN HEART JOURNAL, vol. 33, no. 6, 23 December 2011 (2011-12-23), pages 714 - 723
Attorney, Agent or Firm:
PARSONS, M. Angela et al. (P.O. Box 1022Minneapolis, Minnesota, US)
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