Missense Mutation Identified That Causes Multiple Sclerosis

Analysis of exome sequencing data from over 2,000 families across Canada has revealed a missense mutation associated with a 70% risk of developing progressive multiple sclerosis.  Although 10-15% of MS cases are estimated to have a hereditary component, identification of genes strongly associated with developing the disease has been challenging.  As published in the June 1 of Neuron, the researchers found that carriers of a mutated NR1H3, which encodes the nuclear receptor protein Liver X Receptor alpha (LXRA), had a 70% chance of developing MS.  The protein helps regulate transcription of genes involved in immunity and inflammation, and LXRA knock-out mice have decreased myelination. Pre-existing LXRA-targeting drug candidates could hasten the development of therapies for this subset of cases.

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Primary Reference:
Wang Z, Sadovnick AD, Traboulsee AL, Ross JP, Bernales CQ, Encarnacion M, Yee IM, de Lemos M, Greenwood T, Lee JD, Wright G, Ross CJ, Zhang S, Song W, Vilariño-Güell C. Nuclear Receptor NR1H3 in Familial Multiple Sclerosis. Neuron. 2016 Jun 1;90(5):948-54. [Pubmed].

disease-ms topic-clinical topic-genetics
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