Gene targets associated with amyotrophic lateral sclerosis and methods of use thereof
View Patent ↗Compositions and methods for diagnosis and treatment of ALS are provided.
1. A diagnostic kit for predicting an increased risk of an individual for developing amyotrophic lateral sclerosis (ALS) disease, consisting of an isolated detectably labeled nucleic acid that specifically hybridizes to a mutated TAF15 encoding nucleic acid, wherein the mutated TAF15 encoding nucleic acid comprises a mutation selected from the group consisting of:
i. a missense G>A mutation in exon 14 causing a Gly391Glu alteration; and
ii. a missense C>T mutation in exon 15 causing a Arg408Cys alteration relative to wild-type TAF15 encoding nucleic acids;
wherein said label is selected from the group consisting of an antibody, a product that produces a reporter signal, and a marker, each being suitable for detecting said mutated TAF 15 encoding nucleic acid.
2. An isolated nucleic acid encoding an altered TAF15 protein comprising a genetic alteration selected from the group consisting of a
i) a missense G>A mutation in exon 14 causing a Gly391Glu alteration; and
ii) a missense C>T mutation in exon 15 causing a Arg408Cys alteration, wherein said nucleic acid is a cDNA.
3. The nucleic acid of claim 2 affixed to a solid support.
4. A vector comprising the nucleic acid of claim 2 .
5. A host cell comprising the vector of claim 4 .
6. The host cell of claim 5 which is a drosophila cell or a yeast cell.