Familial MS Linked to Single Genetic Mutation

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A single genetic mutation in a gene called Nr1h3, can cause familial multiple sclerosis (MS), reported scientists from the University of British Columbia and Vancouver Coastal Health.

The study, “Nuclear Receptor NR1H3 in Familial Multiple Sclerosis” was published in the journal Neuron.

The discovery was found while scientists studied two Canadian families with several members affected by MS and a particularly rapid and severe progressive type of the disease characterized by steadily worsening symptoms and lack of effective treatments.

The average age of disease onset among family members was 34 years.

The finding supports the long debated hypothesis that some forms of MS are inherited. In the study case, two-thirds of family members carrying the mutation developed MS.

“This mutation puts these people at the edge of a cliff, but something still has to give them the push to set the disease process in motion,” said the a senior author Carles Vilarino-Guell, in a press release. Vilarino-Guell is an assistant professor of medical genetics and a member of the Djavad Mowafaghian Centre for Brain Health.

The mutation occurs in the Nr1h3 gene which is responsible for the production of a protein known as LXRA, that can turn on or off other genes. LXRA controls the copying of genes involved in lipid homeostasis which is fundamental to good health, inflammation, and innate immunity – also referred to as the first line of defense.

Among LXRA-regulated genes are those responsible for halting excessive inflammation that damages myelin or help create new myelin to repair the damage.

The team of scientists led by Dr. Weihong Song, professor of psychiatry at UBC and another senior author, found that the mutation in the Nr1h3 gene leads to a defective LXRA protein, which is no longer capable of activating its downstream genes.

“If you have this gene, chances are you will develop MS and rapidly deteriorate. This could give us a critical early window of opportunity to throw everything at the disease, to try to stop it or slow it. Until now, we didn’t have much basis for doing that,” said co-author Dr. Anthony Traboulsee, the MS Society of Canada Research Chair at UBC and Director of Vancouver Coastal Health’s MS and Neuromyelitis Optica Clinic.

The results will allow patients with a family history of MS to be screened for the mutation in order to identify those with potential to develop the disease. Individuals who test positive could then undergo early diagnostics and perhaps begin more aggressive treatments to halt disease progression.

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Patricia holds her Ph.D. in Cell Biology from University Nova de Lisboa, and has served as an author on several research projects and fellowships, as well as major grant applications for European Agencies. She also served as a PhD student research assistant in the Laboratory of Doctor David A. Fidock, Department of Microbiology & Immunology, Columbia University, New York.
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One comment

  1. Shasha says:

    HI, I can’t eat coconut oil/olive oil and when my thyroid medicine was low I could not eat fish oil. Saturated/monounsaturated fat clogs my blood vessels. Fish oil thins blood if my thyroid medicine is ok. Many MS people may not get thyroid medicine due to a low TSH. The pituitary may not be making TSH..may also be hurt by gluten like the thyroid. Gluten may make antibodies to the thyroid. I do EDTA/DMPS IV chelations to unclog my blood vessels. It helps remove Ca plaques/free radicals/lowers swelling and inflammmation and removes heavy metals. My liver doesn’t detox heavy metals well. The heavy metals build up and block my thyroid and other chemical reactions. Low Vit D/sunlight causes my Celiac. Vit D controls many genes. Gluten hurts my gut lining…then intestines don’t absorb nutrients/minerals/good oils and cells are not made right to work right. Gluten hurts stomach cells that make HCl and intrinsic factor to carry Vit B12 into my intestines. I need a daily Vit B12 methylcobalamin shot. HCl helps digest meat. I can’t eat meat…clogs my blood vessels. I eat cage free/antibiotic free/organic poached eggs. Heated oils hurt me. Flax hurts me…80% of people can’t convert flax into what is in fish oil. I eat raw walnuts (open shells to avoid hidden gluten and freeze so fresh and not rancid which would make free radicals). All my glands are not working well due to low saturated fat. My pancreas/pituitary/sex glands/adrenals etc. Saturated fat they say is more stable..less free radicals than polyunsaturated fat. I can’t have transfat/hydrogenated fat. Fish oil is awesome help. I also take krill oil/phosphatidylserine/DMAE/CLA/lecithin/evening primrose oil (has GLA). I need to eat no gluten/dairy/soy/sugar/GMO…take vitamins/good oils/minerals..probiotic…LDN..detox. I take bioidentical hormones…estriol/progesterone/testosterone. The estriol helps circulation in the brain. The progesterone lowers swelling/helps thyroid medicine work/gives energy/helps my bones/helps remyelinate the brain along with Vit B12 methylcobalamin with intrinsic factor or the shot and MTHF folate. The testosterone helps lower swelling/helps muscles/gives energy and balances out the hormones.

    Vit D is a hormone made by cholesterol which may help genes. I take 5000IU of Vit D3 daily that stopped my crying for no reason when the weather was gloomy. I try to get out in the sunlight. Vit B12 methylcobalamin stopped my hard crying. Stress uses up B vitamins and Zinc. Adrenals maybe helped by Vit C/Vit B5/progesterone etc.

    My heritage is low sunlight…Scottish/English/Irish on my mom’s side which a person inherits the mitochondria. My mitochondria were weak at birth and heavy metals/antibiotics hurt them more. Thyroid tests don’t show heavy metals/mitochondria damage. Many MS people are getting cooling suits/air conditioners since they don’t sweat…due to low thyroid, but are not getting thyroid medicine like Amour thyroid. Raising oxygen in the brain helps my MS. Too low of oxygen kills my brain cells and then white blood cells go in and clean up the debris and leave a scar which interferes with the flow of electricity.

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