Sqstm1 mutations in amyotrophic lateral sclerosis
AssigneeNorthwestern University
InventorsTeepu Siddique, Faisal Fecto
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Abstract
Provided herein is technology relating to diagnosing, monitoring, and treating disease and particularly, but not exclusively, to methods, compositions, and kits for diagnosing, monitoring, and treating amyotrophic lateral sclerosis by detecting and identifying mutations in the gene SQSTM1 and providing therapies by targeting aberrant biological functions related to mutant forms of SQSTM1.
Claims20
A method for identifying a subject having amyotrophic lateral sclerosis (ALS) or predisposed to have ALS, the method comprising
- a) contacting a sample from the subject with a detection reagent adapted to detect:
- 1) a mutation in a SQSTM1 gene;
- or
- 2) a mutant SQSTM1 protein;
- and
- b) detecting, in vitro:
- 1) a mutation in a SQSTM1 gene;
- or
- 2) a mutant SQSTM1 protein,
- wherein detecting a mutation in a SQSTM1 gene or a mutant SQSTM1 protein identifies the subject as having ALS or as predisposed to have ALS.
A composition comprising a first detection reagent adapted to detect a known marker of ALS and a second detection reagent adapted to detect:
- a) a mutation in a SQSTM1 gene;
- or
- b) a mutant SQSTM1 protein.
Dependencies are inferred from the claim text.