Indication

Target/marker/pathway

Summary

Licensing status

Publication and contact information

Neurology

Amyotrophic lateral sclerosis (ALS)

Chromosome 9 open reading frame 72 (C9orf72)

A study of patient samples suggests reducing levels of transcripts made from C9orf72 repeat expansions could help treat ALS. GGGGCC repeat expansions in C9orf72 are the most common cause of ALS. In frontal cortex autopsy samples and peripheral blood taken from patients with ALS that have C9orf72 repeat expansions, RNA foci containing both sense and antisense repeats were detected that were not seen in patients without the expansions. In C9orf72-containing patient brain samples, antibodies detected aggregated, repeat-associated non-ATG translation products from both sense and antisense transcripts. Next steps include additional studies to understand the basic biology of the C9orf72 repeat expansions.
Isis Pharmaceuticals Inc. has antisense oligonucleotide candidates against C9orf72 in preclinical development to treat ALS.

SciBX 7(2); doi:10.1038/scibx.2014.62
Published online Jan. 16, 2014

Patent pending; available for licensing

Zu, T. et al. Proc. Natl. Acad. Sci. USA; published online Nov. 18, 2013;
doi:10.1073/pnas.1315438110
Contact: Laura P.W. Ranum, University of Florida, Gainesville, Fla.
e-mail:
ranum@ufl.edu