A new treatment strategy may help protect motor neurons in C9orf72 ALS according to a new study led by University of Sheffield’s Pamela Shaw in England. The study found that depleting the SR protein SRSF1 blocked the nuclear export of expanded repeat transcripts in a neuronal cell model of the disease, reducing the synthesis of C9orf72 ALS-associated dipeptide repeat proteins. What’s more, this approach protected motor neurons against toxicity mediated by patient-derived C9orf72 ALS astrocytes (iAstrocytes) in co-culture.
The findings build on previous studies led by St Jude’s J. Paul Taylor in Tennessee and Johns Hopkins University’s Jeff Rothstein in Maryland, which found that the loss of key components of the nuclear export machinery reduced toxicity in a Drosophila model of C9orf72 ALS (see August 2015 news).
The study is published on July 5 in Nature Communications.
Efforts to target nuclear export of expanded repeat RNAs in C9orf72 ALS are now underway (see July 2017 news). Stay tuned.
To learn about other emerging treatment strategies for C9orf72 ALS, including those approaching the clinic, check out: A New Model of C9orf72 ALS Cycles In.
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