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Thursday, December 8, 2011

A rare genetic variant which causes reduced levels of vitamin D appears to be directly linked to multiple sclerosis


December 8, 2011
A rare genetic variant which causes reduced levels of vitamin D appears to be directly linked to multiple sclerosis, says an Oxford University study.
UK and Canadian scientists identified the mutated gene in 35 parents of a child with MS and, in each case, the child inherited it.
Researchers say this adds weight to suggestions of a link between vitamin D deficiency and MS.
The study is in Annals of Neurology.
Multiple sclerosis is an inflammatory disease of the central nervous system (the brain and spinal cord).
Although the cause of MS is not yet conclusively known, both genetic and environmental factors and their interactions are known to be important.
Oxford University researchers, along with Canadian colleagues at the University of Ottawa, University of British Columbia and McGill University, set out to look for rare genetic changes that could explain strong clustering of MS cases in some families in an existing Canadian study.
They sequenced all the gene-coding regions in the genomes of 43 individuals selected from families with four or more members with MS.
The team compared the DNA changes they found against existing databases, and identified a change in the gene CYP27B1 as being important.
When people inherit two copies of this gene they develop a genetic form of rickets - a disease caused by vitamin D deficiency.
Just one copy of the mutated CYP27B1 gene affects a key enzyme which leads people with it to have lower levels of vitamin D.



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