Scientists aim to understand how a family has a higher risk of multiple sclerosis in its members.
A combination of mutations in two genes makes members of a Canadian family a 7-in-10 chance of developing multiple sclerosis (MS) — a radical increase from the 1-in-1,000 risk among the general population, according to a study that illustrates the huge impact certain genes can have on disease development.
Interestingly, the genes are involved in both immune processes and phagocytosis — a process by which cells get rid of cellular debris and which has not been linked to MS before.
Their study, “Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis,” appeared in the journal Human Mutation.
Researchers usually view MS as resulting from the small effects of numerous genes that come together with unfortunate environmental factors to cause disease. Yet the team challenges the notion that MS is not an inherited condition by demonstrating that in rare cases it, indeed, can be. It also opens up the possibility of genetic screening in people with a family history of the disease.
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