IP Library Patent Application 13194534
Patent Application
App. No. 13/194,534

SIRTUIN 5 POLYMORPHISMS AND NEUROLOGICAL DISEASES

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Patent No.
US None
App. No.
13/194,534
Abstract

A method for determining a subject's risk of developing a neurological disease or disorder such as Huntington's or Parkinson's disease, based on the presence of SIRT5 prom2 (rs9382222) C/C genotype is provided. Also provided are compositions including primers and probes, which are capable of selectively interacting with nucleic acids, such as those comprising the SNP disclosed herein.

Claims (22)

1 . A method for determining a subject's risk or propensity of developing a neurological disease or disorder, comprising:

determining the SIRT5 prom2 (rs9382222) genotype in a sample obtained from the subject, wherein the presence of the SIRT5 prom2 (rs9382222) C/C genotype is indicative of an increased risk of developing a neurological disease or disorder relative to a subject with an SIRT5 prom2 (rs9382222) C/T genotype.

2 . The method of claim 1 wherein the neurological disease or disorder is related to mitochondrial dysfunction.

3 . The method of claim 1 wherein the neurological disease or disorder is Huntington's disease.

4 . The method of claim 1 wherein the neurological disease or disorder is Parkinson's disease.

5 . The method of claim 1 wherein the neurological disease or disorder is schizophrenia.

6 . The method of claim 1 , wherein the SIRT5 prom2 (rs9382222) genotype is detected by gene sequencing.

7 . The method of claim 1 , wherein the SIRT5 prom2 (rs9382222) genotype is detected by allele specific hybridization.

8 . The method of claim 1 , wherein a treatment protocol is selected for the subject based on the presence of the SIRT5 prom2 (rs9382222) C/C genotype.

9 . A method for determining a subject's risk or propensity of developing a neurological disease or disorder, comprising:

determining the SIRT5 prom2 (rs9382222) genotype in a sample obtained from the subject, wherein the presence of SIRT5 prom2 (rs9382222) C/T genotype is indicative of a reduced risk of developing a neurological disease or disorder relative to a subject with an SIRT5 prom2 (rs9382222) C/C genotype.

10 . The method of claim 9 wherein the neurological disease or disorder is Huntington's disease.

11 . The method of claim 9 wherein the neurological disease or disorder is Parkinson's disease.

12 . The method of claim 9 wherein the neurological disease or disorder is Alzheimer's disease.

13 . The method of claim 9 wherein the neurological disease or disorder is selected from the group consisting of schizophrenia, bipolar disorder, and amyotrophic lateral schlerosis.

14 . A nucleic acid probe comprising at least 14 nucleotides that specifically hybridizes under stringent conditions to an SIRT5 prom2 (rs9382222) C allele or T allele.

15 . The nucleic acid probe of claim 14 , wherein the nucleic acid probe is a molecular beacon.

16 . The nucleic acid probe of claim 14 , wherein the nucleic acid probe is attached to a solid support.

17 . The nucleic acid probe of claim 14 , wherein the nucleic acid probe is a component of a kit.

18 . The nucleic acid probe of claim 14 , wherein the nucleic acid probe is labeled with a detectable label.

19 . The nucleic acid probe of claim 14 wherein the nucleic acid probe consists of 14-20 consecutive nucleotides of SEQ ID NO:1 spanning the cystidine at position 27 of SEQ ID NO:1, or a complement thereof, wherein the nucleic acid probe specifically hybridizes to SEQ ID NO:1 under stringent conditions.

20 . The nucleic acid probe of claim 14 wherein the nucleic acid probe consists of 14-20 consecutive nucleotides of SEQ ID NO:2 spanning the thymidine at position 27 of SEQ ID NO:2, or a complement thereof, wherein the nucleic acid probe specifically hybridizes to SEQ ID NO:2 under stringent conditions.

Assignments (4)
CONFIRMATORY LICENSE Recorded Jun 6, 2019
From: UNIVERSITY OF PITTSBURGH
To: NATIONAL INSTITUTES OF HEALTH (DEITR)
Reel/Frame 049390/0097 →
CONFIRMATORY LICENSE Recorded Jan 22, 2016
From: UNIVERSITY OF PITTSBURGH
To: NATIONAL INSTITUTES OF HEALTH - DIRECTOR DEITR
Reel/Frame 037557/0196 →
CONFIRMATORY LICENSE Recorded Nov 16, 2011
From: UNIVERSITY OF PITTSBURGH - OF THE COMMONWEALTH SYSTEM OF HIGHER EDUCATION
To: NATIONAL INSTITUTES OF HEALTH (NIH), U.S. DEPT. OF HEALTH AND HUMAN SERVICES (DHHS), U.S. GOVERNMENT
Reel/Frame 027241/0030 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Oct 25, 2011
From: SIBILLE, ETIENNE; GLORIOSO, CHRISTIN
To: UNIVERSITY OF PITTSBURGH - OF THE COMMONWEALTH SYSTEM OF HIGHER EDUCATION
Reel/Frame 027115/0828 →