多发性硬化症 z-bo 2020-10-26 591

　　An international research team led by the University of British Columbia has made a scientific advance, which they hope will lead to the development of preventive treatments for multiple sclerosis (MS).

　　In a study published in the journal PLOS Genetics, researchers found that in families diagnosed with multiple sclerosis, mutations in 12 genes are believed to have largely contributed to multiple sclerosis The onset of disease.

　　"These genes are like lighthouses, illuminating the root of multiple sclerosis," the first author of the research report, assistant professor of medical genetics at Columbia University School of Medicine, Michael Smith scholar Carles Vilari? o-Güell said.

　　Multiple sclerosis is a disease that affects the central nervous system. Cells from the immune system attack and destroy the protective sheath of nerve cells. This disease often causes disability and can have a major impact on the quality of life.

　　In this study, the researchers sequenced all known genes of patients from 34 families with three or more members who were sick, and checked the genetic variation of all members. By observing the genes of 132 patients, they found that 12 gene mutations can cause an overly hyperactive autoimmune system to attack the myelin sheath-the insulating layer around the nerves of the brain and spinal cord.

　　Among people diagnosed with multiple sclerosis, only 13% are thought to have the genetic form of the disease, but it is estimated that those with this mutation found in this new study will spend their entire lives The chance of suffering from multiple sclerosis is as high as 85%.

　　Vilarino-Guell’s goal is to develop cell and animal models with identified mutations to simulate the biological processes leading to the onset of multiple sclerosis patients, and ultimately develop preventive treatments for the disease.

　　"We have treatments for the symptoms of multiple sclerosis, but there are no treatments for the cause. People with multiple sclerosis can reduce the onset of the disease by taking drugs, but the disease is still developing. Now, there are With the knowledge of these mutations, we can try to find the root cause. These mutations reveal a common biological process that leads to increased inflammation in multiple sclerosis families."

　　Researchers hope that these findings will one day lead to personalized treatments for patients with multiple sclerosis and provide preventive strategies for those at higher risk of disease.