Potential Genetic Markers of Multiple Sclerosis Severity
upstart writes:
Genes Linked to Most Severe Symptoms of Multiple Sclerosis:
In a bid to determine factors linked to the most debilitating forms of multiple sclerosis (MS), Johns Hopkins Medicine researchers say they have identified three so-called "complement system" genes that appear to play a role in MS-caused vision loss. The researchers were able to single out these genes - known to be integral in the development of the brain and immune systems - by using DNA from MS patients along with high-tech retinal scanning.
If further studies confirm the researcher's findings, reported in the September issue of Brain, the investigators say they could serve as markers for monitoring and predicting progression and severity of MS, an unpredictable disorder in which the immune system eats away at protective insulation around nerve cells. This approach, the researchers say, represents the beginning of precision medicine for MS and may ultimately allow designer therapies, as is being done for specific cancers.
In MS, nerve communication breaks down over time between the brain and the rest of the body, causing chronic and/or intermittent muscle spasms, tremors, imbalance, pain, numbness, depression, loss of bladder or bowel control and vision problems. MS is more common in women, and symptoms vary widely.
"Although we have treatments for the type of MS where symptoms come on in bursts - called relapsing-remitting MS - we don't have any way to stop the kind of MS in which the nerve cells start to die, known as progressive MS," says Peter Calabresi, M.D., professor of neurology and neuroscience at the Johns Hopkins University School of Medicine and co-director of the Johns Hopkins Precision Medicine Center of Excellence for Multiple Sclerosis. "We believe that our study opens up a new line of investigation targeting complement genes as a potential way to treat disease progression and nerve cell death."
For their study, the researchers used optical coherence tomography -- an imaging technique that allowed the researchers to look at the back of each patient's eyes and assess damage to the nerve cells in the retina -- in 374 patients with all types of MS. The patients were an average of 43 years old and mostly women (78%).
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