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.
Click here to read more.
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].