Harvard study shows link between RNA misfires and ALS, dementia

Wednesday, June 14, 2017 - 14:21 in Biology & Nature

Fixing glitches in the assembly of RNA may hold the key to treating ALS and frontal lobe dementia, according to a Harvard Medical School (HMS) study published this week in Cell Reports. Researchers found that a genetic mutation often linked to those diseases creates a toxic protein that disrupts the editing, or splicing, of RNA, the molecular messengers that turn genes into functional proteins. “What we are finding is that disruptions in RNA splicing appear to be a common thread linking these motor neuron disorders,” said senior study author Robin Reed, professor of cell biology at HMS. “Much more research is needed, but if we could correct splicing errors with so-called splicing modulator compounds, we could prevent disruptions … which may have efficacy for the treatment of ALS and FTD.” In the HMS study, toxic peptides produced by mutation of gene C9ORF72 dislocated part of the spliceosome, the molecular machine responsible for RNA assembly, driving it...

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