14 DAY TRIAL // Multiple sclerosis, a disease of the nervous system that often leaves patients paralyzed, in a constantly deteriorating condition, is one of the conditions health care experts are fighting hardly against. Its onset and development have long since been associated with deficits in vitamin D metabolism processes, but now a new study has found evidence at a genetic level that the vitamin plays an important part in preventing or facilitating the emergence of the disease.
The research team, made up of experts from Australia and New Zealand, has discovered the connections in one of two new genetic regions in the human brain recently associated with multiple sclerosis (MS). According to MS Australia, more than 18,000 people in the country suffer from the condition, so finding ways of mitigating or reducing its effects in the general population is of paramount importance.
Geneticist Justin Rubio, from the Melbourne-based Florey Neuroscience Institute, is the lead author of a study detailing the new research. The paper appears in the latest issue of the scientific journal Nature Genetics. In the research, the genomes of more than 4,000 MS patients were compared to those of healthy subjects in a control group. The main point of this investigation was to discover areas of variations inside the genomes, which would have undoubtedly hinted at a genetic cause for MS.
Specific points in the genetic material, known as SNPs, were the main focus of the comparison. “We looked for differences in the frequency of these SNP's between people who have MS and people who don't,” Rubio explained, quoted by ABC News. On two regions of the genome, in the chromosome 12 and the chromosome 20, the researchers discovered significant variations between the MS patients and the control group, but they said that the variations of the SNPs themselves were no clear indicators of danger, as they were only markers.
“The markers are correlated with variation in the region that may influence the function of a gene that might increase your risk of MS,” Rubio added. “We found the region [on chromosome 12] and it's got 17 genes on it, so we can't be as specific, but we've found a pretty strong candidate.” The suspect gene, known by the catchy name of CYP27P1, is also involved in the metabolism of vitamin D, a substance naturally produced in the body when the skin is exposed to sunlight, and which plays a crucial role in the immune system by preventing inflammation.
“And inflammation is what occurs in MS,” Rubio said. He also highlighted the fact that, the farther you went from the Equator, MS incidence increased, while the vitamin D metabolism efficiency decreased. “In Australia, the prevalence of MS in northern Queensland is 20 in 100,000, in Tasmania it's about five times that,” he explained.