Fig4 gene mutations in neurodegeneration
AssigneesThe Regents of the University of Michigan, Baylor College of Medicine
InventorsMiriam Meisler, James R. Lupski, Clement Chow
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Abstract
The present invention relates to neuropathy, in particular to mutations in the FI G4 gene. The present invention also provides assays for the detection of variant FIG4 alleles, and assays for detecting FIG4 polymorphisms and mutations associated with disease states.
Claims37
A method for detection of a variant FIG4 gene in a subject, comprising:
- detecting the presence or absence of a variant FIG4 gene in a biological sample from said subject.
A method, comprising:
- a) contacting an animal exhibiting symptoms of CMT4J disease or Dejerine-Sottas neuropathy with a test compound;
- and
- b) determining the presence or absence of reduced symptoms in the presence of said test compound relative to the absence of said test compound.
A method, comprising:
- a) contacting an isolated cell expressing a variant FIG4 polypeptide with a test compound;
- and
- b) assaying the activation of Fab1/PIKfyve in said cell in the presence of said test compound relative to the level in the absence of said test compound.
A method for detection of a variant FIG4 gene in a subject, wherein said variant FIG4 gene comprises any combination of compound heterozygous or homozygous mutant alleles of FIG4, comprising:
- detecting the presence or absence of said variant FIG4 gene in a biological sample from said subject.
Dependencies are inferred from the claim text.