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Methods and compositions relating to diagnosing and treating cardiomyopathy and particularly relating to methods and compositions for diagnosing and treating arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) are described. Provided are methods for screening for, diagnosing or detecting a risk of developing arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) comprising detecting the presence of a transmembrane protein 43 (TMEM43) disease associated variant in a sample of a subject, wherein the presence of a TMEM43 disease variant is indicative that the subject has ARVD/C or an increased risk of developing ARVD/C compared to an individual having wild type TMEM43.

Titel:	DIAGNOSTIC TEST FOR CARDIOMYOPATHY
Autor/in / Beteiligte Person:	Haywood, Annika ; Merner, Nancy ; French, Vanessa ; Young, Terry-Lynn ; Hodgkinson, Kathy ; Connors, Sean ; Parfrey, Patrick
Link:	Diesen Eintrag von USPTO anschauen (Volltext)
Veröffentlichung:	2009
Medientyp:	Patent
Sonstiges:	Nachgewiesen in: USPTO Patent Applications Sprachen: English Document Number: 20090291856 Publication Date: November 26, 2009 Appl. No: 12/339877 Application Filed: December 19, 2008 Assignees: GENESIS GROUP INC. (St. John's, CA) Claim: 1. A method of screening for, diagnosing and/or detecting an increased risk of developing arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) in a subject comprising detecting a presence of a transmembrane protein 43 (TMEM43) disease associated variant in a sample of the subject, wherein the presence of the TMEM43 disease variant is indicative that the subject has ARVD/C or an increased risk of developing ARVD/C. Claim: 2. The method of claim 1 wherein the TMEM43 disease associated variant comprises a modification selected from a gene mutation, a germline mutation, a sporadic mutation, a deletion mutation, a missense mutation, a point mutation, a coding mutation and an amino acid mutation. Claim: 3. The method of claim 1 wherein the TMEM43 disease associated variant comprises mutation/alteration of a nucleotide corresponding to genome position 14158166. Claim: 4. The method of claim 2 wherein the TMEM43 disease associated variant comprises 14158166C>T. Claim: 5. The method of claim 1 wherein the TMEM43 disease associated variant comprises mutation/alteration of a nucleotide corresponding to position 1073 in a TMEM43 transcript. Claim: 6. The method of claim 1 wherein the TMEM43 disease associated variant comprises 1073C>T. Claim: 7. The method of claim 1 wherein the TMEM43 disease associated variant comprises mutation of the amino acid corresponding to position 358 of TMEM43 polypeptide. Claim: 8. The method of claim 1 wherein the TMEM43 disease associated variant S358L. Claim: 9. The method of claim 1 wherein the sample comprises blood, a white blood cell, cardiac tissue, a cardiac cell and/or a nucleated cell. Claim: 10. The method of claim 1 wherein the subject is presymptomatic. Claim: 11. The method of claim 1 wherein the subject has at least one blood relation with ARVD/C. Claim: 12. A composition comprising at least one isolated nucleic acid sequence; wherein at least one isolated nucleic acid sequence hybridizes to: a. a RNA product of TMEM43 disease associated variant; and/or b. a nucleic acid complementary to a); and/or c. a nucleic acid corresponding to a); wherein the composition is used to detect a TMEM43 disease associated variant. Claim: 13. The composition of claim 12 wherein at least one isolated nucleic acid is useful for amplifying a TMEM43 disease associated variant. Claim: 14. The composition of claim 12 wherein at least one isolated nucleic acid comprises a probe that specifically hybridizes to a disease associated variant. Claim: 15. The composition of claim 12 comprising one or more isolated nucleic acids selected from SEQ ID NOS: 15-54. Claim: 16. The method of claim 15 wherein the TMEM43 disease associated variant is detected by one or more of genotyping, using a probe that hybridizes a TMEM43 disease associated variant and/or wildtype TMEM43, PCR, RT-PCR, NASBA, using a binding agent, or microarray. Claim: 17. A kit for screening for, diagnosing or detecting an increased risk of developing arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) comprising: a. a TMEM43 disease associated variant detection agent; and b. instructions for use. Claim: 18. The kit of claim 17 wherein the detection agent comprises an isolated nucleic acid, a probe, primer, a genotyping primer and/or an antibody. Claim: 19. A method of identifying TMEM43 disease associated variants comprising determining whether there is a germline alteration in the sequence of TMEM43 gene or a TMEM43 gene regulatory sequence in a sample of a subject, wherein the subject has ARVD/C. Claim: 20. A method of identifying substances which bind a TMEM43 disease associated variant comprising: a. contacting a TMEM43 disease associated variant with a test substance, under conditions which allow for formation of a complex between the TMEM43 disease associated variant and the test substance, and b. detecting for complexes between TMEM43 disease associated variant and the test substance; c. wherein the presence of complexes indicates that the test substance binds the TMEM43 disease associated variant. Claim: 21. A method of treatment for subjects with ARVD/C and/or a risk of developing ARVD/C comprising: a) detecting a TMEM43 disease associated variant according to a claim 1; b) providing ICD therapy for a subject having the TMEM43 disease associated variant. Current U.S. Class: 506/9 Current International Class: 40; 12; 12; 07; 01; 01

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DIAGNOSTIC TEST FOR CARDIOMYOPATHY