Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Reexamination Certificate
2007-11-20
2007-11-20
Benzion, Gary (Department: 1637)
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
C435S091100, C435S091200
Reexamination Certificate
active
10495409
ABSTRACT:
The present invention is intended to elucidate the cause of severe cardiomyopathy in subline (T) not manifesting the macroscopic cardiac hypertrophy, which has been separated from a hamster (B) with hypertrophic cardiomyopathy and clarify the pathogenic cause of dilated cardiomyopathy, thereby establishing a method of detecting and identifying dilated cardiomyopathy and a method of preventing and treating the same. The present invention relates to a desmin gene having a point mutation at the site corresponding to the 571-position of the base sequence in the cDNA translation region of Syrian hamster; a polypeptide thereof; and an oligonucleotide consisting of 5 to 250 bases including the point mutation site or an oligonucleotide having a sequence complementary thereto. Moreover, the present invention relates to a method of detecting and identifying the point mutation at the site corresponding to the 571-position of the base sequence in the cDNA translation region of Syrian hamster to judge whether or not it is a gene causative of hereditary cardiomyopathy.
REFERENCES:
Quax et al. Cell vol. 43:327-338. 1985.
Park et al. Clinical Genetics vol. 57:423-1-429. 2000.
Dalakas et al.,New England Journal of Medicine, 342(11p):770-780 (2000).
Database Medline, National Library of Medicine, PMID: 11061256, Sugawara et al.,Neurology, 55(7):986-990 (2000).
Database Medline, National Library of Medicine, PMID: 10905661, Park et al.,Clin. Genet., 57(6):423-439 (2000).
Birkenberger et al.,J. Cell. Biol., 111(5, Part 1):2063-2075 (1990).
Kawada et al.,Biochem. Biophys. Res. Commun., 284(2):431-435 (2001).
Sakamoto et al.,Japanese Journal of Pharmacology, 88(Suppl. 1):66P-P-17 (2002).
P. Vicart et al. “Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy”Human Genetics, vol. 98, No. 4, 1996, pp. 422-429, XP002325483.
Database EMBL Online! Mar. 9, 1987, “Hamster desmin gene encoding the intermediate filament (IF) protein desmin, exons 1, 2, 3, 4, 5 and 6” XP002325534.
B. Goudeau et al. “Structural and functional analysis of a new desmin variant causing desmin-related myopathy”Human Mutation, vol. 18, No. 5, 2001, pp. 388-396, XP002325484.
G. Sjöberg et al. “A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation”Human Molecular Genetics, vol. 8, No. 12, Nov. 1999, pp. 2191-2198, XP002325485.
A. Muñoz-Mármol et al. “A dysfunctional desmin mutation in a patient with severe generalized myopathy” Proceedings of the National Academy of Sciences of the United States of America, vol. 95, No. 19, Sep. 15, 1998, pp. 11312-11317, XP002325486.
Database EMBL[online ]Mar. 13, 1998 “Gallus gallus mRNA for desmin, partial CDs”, retrieved from EBI Database accession No. AB011672.
D. Li et al., “Desmin Mutation Responsible for Idiopathic Dilated Cardiomyopathy”, Circulation, pp. 461-464 (1999).
Benzion Gary
Calamita Heather
Conlin David G.
Japan Science and Technology Agency
O'Day Christine C.
LandOfFree
Desmin gene having novel point mutation causative of dilated... does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Desmin gene having novel point mutation causative of dilated..., we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Desmin gene having novel point mutation causative of dilated... will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-3890304