Atlastin
AssigneeThe Regents of the University of Michigan
InventorsJohn K. Fink, Xinping Zhao
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Abstract
The present invention relates to methods and compositions of a novel gene and the peptide encoded by the gene. Mutations in the gene, named atlastin, are factors in the disease Hereditary Spastic Paraplegia and related disorders. The present invention will be used for the in the research, diagnosis and treatment of these disabling diseases.
Claims28
A method of identifying subjects who have HSP and those at risk of developing HSP comprising:
- a) providing nucleic acid from a subject, wherein the nucleic acid comprises a atlastin gene;
- and
- b) detecting the presence or absence of one or more variations in the atlastin gene.
A method of identifying subjects who have HSP and those at risk of developing HSP comprising:
- a) providing a blood sample from a subject, wherein the blood sample comprises an atlastin protease;
- and
- b) detecting the presence or absence of one or more variants of the atlastin protease.
A kit for determining if a subject has HSP or is at risk of developing HSP comprising a detection assay, wherein the detection assay is capable of specifically detecting a variant atlastin allele.
A kit for determining if a subject has HSP or is at risk of developing HSP comprising a detection assay, wherein the detection assay is capable of specifically detecting a variant atlastin GTPase.
An isolated nucleic acid comprising a sequence encoding a polypeptide selected from the group consisting of SEQ ID NO:
- 1, 3, 4 and 5.
An isolated nucleic acid sequence comprising a sequence selected from the group consisting of SEQ ID NOS:
- 1, 3, 4 and 5.
An isolated polypeptide comprising an amino acid sequence comprising SEQ ID NO:
- 2.
A method of identifying subjects at risk of carrying an allele for HSP comprising:
- a) providing nucleic acid from a subject, wherein the nucleic acid comprises a atlastin gene;
- and
- b) detecting the presence or absence of one or more variations in the atlastin gene.
A method of treating a patient with HSP, comprising administering a therapeutically effective amount of an atlastin such that the symptoms of the disease are alleviated, wherein the atlastin is selected from the group consisting of:
- recombinant atlastin;
- synthetic atlastin;
- mutants, variants, fragments, and fusions of recombinant atlastin;
- and mutants, variants, fragments, and fusions of synthetic atlastin.
Dependencies are inferred from the claim text.