Methods for diagnosing episodic movement disorders and related conditions
Inventors
Fink, John K. • Rainier, Shirley
Assignees
US Department of Veterans Affairs • University of Michigan Ann Arbor
Publication Number
US-9416421-B2
Publication Date
2016-08-16
Expiration Date
2025-06-27
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Abstract
The present invention provides compositions and methods for research, diagnostic, drug screening, and therapeutic applications related to paroxysmal dystonic choreoathetosis and related conditions. In particular, the present invention provides mutations in the myofibrillogenesis regulator 1 (MR-1) gene associated with such conditions.
Core Innovation
The invention provides compositions and methods for research, diagnostic, drug screening, and therapeutic applications related to paroxysmal dystonic choreoathetosis (PDC) and related conditions. In particular, it identifies mutations in the myofibrillogenesis regulator 1 (MR-1) gene associated with PDC and related episodic movement disorders.
The problem addressed is the lack of understanding of the pathophysiology, genetics, and biochemistry underlying episodic movement disorders such as PDC, which currently have no cure. Existing medications only mask symptoms, and better diagnostic and treatment options are needed.
Claims Coverage
The patent contains one independent claim focused on a method for detecting mutations in the MR-1 gene in human subjects. The claim describes the main inventive features related to the detection method using oligonucleotides targeting specific mutations.
Method for detecting MR-1 gene mutations
A method comprising contacting a nucleic acid sample from a human subject with an oligonucleotide that specifically hybridizes to a nucleic acid sequence encoding a MR-1 protein with substitution at amino acid position 7, 9, or both in SEQ ID NO:5, followed by detecting hybridization under high stringency conditions as an indication of MR-1 gene mutation in the subject.
Detection of specific sequence mutations in MR-1
The nucleic acid sequences targeted comprise mutations including a C to T change at a position corresponding to position 66 or 72 in SEQ ID NO:1, which correspond to amino acid substitutions at positions 7 and 9 of the MR-1 protein.
Use of detectably labeled oligonucleotides
The oligonucleotide used for hybridization is detectably labeled with enzymatic, fluorescent, radioactive, and/or luminescent moieties to allow detection.
Attachment of oligonucleotides to solid support
The oligonucleotide may be attached to a solid support to facilitate detection assays.
The claims cover a diagnostic method to detect specific MR-1 gene mutations associated with episodic movement disorders, employing labeled or immobilized oligonucleotide probes targeting substitutions at MR-1 amino acid positions 7 and 9, with detection by hybridization under stringent conditions.
Stated Advantages
Provides laboratory-based and clinical diagnostic testing for PDC and related disorders.
Enables identification and characterization of treatments for episodic movement disorders.
Offers insights into causes and treatments for a range of episodic movement and drug-induced movement disorders.
Facilitates genetic counseling and improved diagnosis distinguishing PDC from other movement disorders.
Provides therapeutic pathways including MR-1 protein or gene replacement.
Documented Applications
Research, diagnostic, drug screening, and therapeutic applications related to paroxysmal dystonic choreoathetosis and related episodic movement disorders.
Genetic testing for diagnosis of PDC and related conditions, including pre-implantation and in utero screening.
Screening for individual susceptibility and risk assessment for drug-induced movement disorders such as those caused by neuroleptics.
Use of transgenic animal models expressing mutant MR-1 for research and drug screening.
Application of MR-1 related assays for identifying therapeutic agents.
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