New Genetic Risk Factor For MS Found

shutterstock_88515778There are still a lot of things that scientists do not know about multiple sclerosis. This intriguing auto-immune disease affecting the central nervous system still largely remains a puzzle and has evaded the discovery of a possible cure. But continuing studies have allowed scientists and medical experts to learn more about the disease and how it affects the body the way it does. Recent research has uncovered a possible genetic factor linked to an increased risk of developing the said disease among women.

Researchers from the University of Illinois in Chicago have identified a genetic variation in women that may potentially increase their risk of developing MS. This genetic variation is found twice as often among women suffering from MS compared to women not affected by the said disease. According to Doug Feinstein, professor of anesthesiology at UIC and research biologist at the Jesse Brown VA Medical Center and senior author of the said study, it is “one of the strongest genetic risk factors for MS discovered to date.”

Feinstein and his team of UIC researchers tested three sisters among a group of five siblings composed of three sisters, including twins, and a brother with ages between 23 and 26 years old. All siblings were diagnosed with MS. The researchers found the genetic variant in the three sisters with MS that they tested.

The researchers found a genetic change in the three sisters known as SNP or single nucleotide polymorphism, which is a change in a single base-pair of the DNA, in a gene called STK11. This gene plays a role in tumor suppression and also play several roles in brain function. To further determine whether the SNP is a contributing factor to the development of MS in the siblings, the researchers also screened DNA samples from 1,400 controls, comprising of 750 people with MS and 650 without. The said samples were provided by Jorge Oksenberg from the University of California, San Francisco, who is known as a leading expert on the genetics of MS.

The researchers discovered that the SNP was 1.7 times more prevalent among women with MS compared to women who did not suffer from the disease. This makes it one of the highest genetic risk factors for MS known so far. The researchers estimate that 7 percent of the general population may have the STK11 SNP present. Considering that far fewer people develop MS, the researchers believe that there may be other genetic and non-genetic factors that may also play a role in the development of the said disease.

Feinstein and his colleagues plan to investigate other possible genetic factors that may be linked to MS among the five siblings they tested and may include their parents. The researchers will also continue to look further into the function of the STK11 gene in order to understand the molecular pathways that may be involved in the development of multiple sclerosis. Findings of the report are published in the journal ASN NEURO.

Source: University of Illinois at Chicago. (2015, March 4). Strong genetic risk factor for MS discovered in family of five affected siblings. ScienceDaily. Retrieved March 12, 2015 from

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