Two years ago, an international team of researchers identified a gene mutation known as C9orf72 that was responsible for up to 40% of all inherited cases of amyotrophic lateral sclerosis (ALS,) also known as Lou Gehrig’s Disease). Although the researchers knew the mutation was a repeat expansion in which six nucleotides were repeated thousands of times, they didn’t know how it caused disease. In a new study published in Neuron, researchers at Johns Hopkins University showed that the C9orf72 mutation disrupts normal RNA production by attaching to RNA-binding proteins. Experiments using induced pluripotent stem cells from ALS patients carrying the C9orf72 mutation revealed that the attachment between C9orf72 and RNA-binding proteins led to the production of abnormal RNAs and hypersensitivity to stress. Treating the cells with a chemical compound that could bind to the repeat expansion led to a return to normal RNA functioning. The researchers hope to begin testing these compounds in humans with the C9orf72 mutation in the next few years.
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Journal article: RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention. Neuron, 2013. doi: 10.1016/j.neuron.2013.