A Genetic Marker for ALS
- Technology Benefits
- Increasedspecificity Faster turn-around
- Detailed Technology Description
- Novel diagnostic biomarker for amyotrophic lateral sclerosis (ALS) #CNS #ALS #therapeutics #biomarker #diagnostic #marker
- *Abstract
-
Northwestern researchers have identified a novel gene, SQSTM1, for potential use in development of diagnostic tools for ALS. Presently, patients are diagnosed based on clinical, electrophysiological and pathological features, which are typically difficult and time-consuming practices. In their recent study, Prof. Siddique and colleagues identified ten different mutations in SQSTM1 that are associated with both sporadic and familial forms of ALS. This enhanced understanding of the genetics behind ALS offers opportunities to design molecular diagnostic tools that are both faster and more specific. Furthermore, since SQSTM1 protein is involved in protein recycling and autophagy, this discovery could also further rational drug design efforts aimed at curing or treating ALS.
- *Inventors
- Faisal FectoTeepu Siddique*
- *Publications
- Fecto F, Yan J, Vemula SP,Liu E, Yang Y, Chen W, Zheng JG, Shi Y, Siddique N, Arrat H, Donkevoort S,Ajroud-Driss S, Sufit RL, Heller SL, Deng H-X, Siddique T (2011) SQSTM1 Mutations in Familial andSporadic Amyotrophic Later Sclerosis, Arch.Neurol. 68: 1440-1446.
- Country/Region
- USA
