Thursday, February 28, 2013
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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.
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;
Contact: Dieter Edbauer, Ludwig Maximilian University of
Munich, Munich, Germany
Ash, P.E.A. et al. Neuron; published online Feb. 12, 2013;
Contact: Leonard Petrucelli, Mayo Clinic Florida, Jacksonville,
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