Indication

Target/marker/pathway

Summary

Licensing status

Publication and contact information

Neurology

Amyotrophic lateral sclerosis (ALS); frontal temporal dementia

Chromosome 9 open reading frame 72 (C9ORF72)

Studies in vitro and in patient tissue samples have identified peptides translated from C9ORF72 that could be biomarkers for frontal temporal lobar dementia (FTLD) and ALS or could be targeted to treat the conditions. Expansion of GGGGCC repeats in the noncoding region of C9ORF72 is the most common genetic marker associated with ALS and FTLD. In the first study, non-ATG (RAN) translation of the repeat expansions created insoluble protein aggregates, including poly-(Gly-Ala) dipeptide-repeat proteins, which were detected in cytoplasmic inclusions in CNS samples from patients with C9ORF72 repeats but not in healthy controls. In the second study, the aggregates were detected in neuronal inclusions in CNS tissues from patients with FTLD and ALS carrying the C9ORF72 repeats but not in peripheral tissues from the patients or CNS tissues from patients without the mutation.
Next steps could include screening for compounds that interfere with the production or aggregation of these proteins.

SciBX 6(8); doi:10.1038/scibx.2013.200
Published online Feb. 28, 2013

Patent application filed for findings in first study; available for licensing

Patent and licensing status undisclosed for findings in second study

Mori, K. et al. Science; published online Feb. 7, 2013;
doi:10.1126/science.1232927
Contact: Dieter Edbauer, Ludwig Maximilian University of Munich, Munich, Germany
e-mail:
dieter.edbauer@dzne.de

Ash, P.E.A. et al. Neuron; published online Feb. 12, 2013;
doi:10.1016/j.neuron.2013.02.004
Contact: Leonard Petrucelli, Mayo Clinic Florida, Jacksonville, Fla.
e-mail:
petrucelli.leonard@mayo.edu