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Rare genetic flaw linked to multiple sclerosis identified
Thursday June 2, 2016 8:26 PM, Agencies

Toronto: Researchers have found a single gene mutation -- a rare alteration in DNA -- that can lead to the progressive and severe form of the neurological disease multiple sclerosis (MS).

Nearly two million people globally suffer from MS, a disease in which the body attacks the protective coating on nerve cells in the brain and spinal cord, stopping them communicating properly and leading to inflammation, pain, disability and in severe cases early death.

The findings showed that the mutation in a gene called NR1H3 is a missense mutation that causes loss of function of LXRA protein.

LXRA protein basically controls inflammation, innate immunity, and lipid regulation -- the ability of the body to metabolise naturally occurring molecules, such as fats and vitamins. These are all considered important factors for the disease.

Also, people who carry the newly discovered mutation have a 70 percent chance of developing the disease, as well as the risk of developing an aggressive form of the disease.

Further, mice with this gene were found to have neurological problems, including a decrease in myelin production.

"There is clear evidence to support that this mutation has consequences in terms of biological function, and the defective LXRA protein leads to familial MS development," said Weihong Song from University of British Columbia (UBC) in Canada.

"This finding is critical for our understanding of MS as little is known about the biological processes that lead to the onset of the disease," Carles Vilarino-Guell, Assistant Professor at UBC, noted.

In this study, published in the journal Neuron, the mutation was found among two-thirds of the people in two Canadian families.

"This discovery has massive amounts of potential for developing new treatments that tackle the underlying causes, not just the symptoms," Vilarino-Guell noted.



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