Molecular targets for ALS and related disorders

摘要

Provided herein are compositions and methods for diagnosis, risk assessment, research, and therapy related to amyotrophic lateral sclerosis (ALS) and ALS-related disorders. In particular, the present invention relates to mutations in the UBQLN2 gene that cause dominantly inherited chromosome X-linked ALS and ALS/dementia.

主权项

1. A method of detecting a mutation in a UBQLN2 nucleic acid in a human sample, comprising:
(a) contacting a UBQLN2 nucleic acid in a human sample with an oligonucleotide that specifically hybridizes to one or more missense mutations in a UBQLN2 nucleic acid, wherein the one or more missense mutations results in a substitution of a proline in the 12 P-X-X tandem repeats encoded by the UBQLN2 gene; and (b) detecting hybridization of the oligonucleotide with the UBQLN2 nucleic acid under specific hybridization conditions, wherein detection of hybridization is indicative of a mutation in the UBQLN2 nucleic acid.