[ad_1]
An international team of researchers led by the University of British Columbia has made a scientific breakthrough that, he hopes, will lead to the development of preventative therapies for multiple sclerosis (MS).
In a study published today in PLOS Genetics, the researchers discovered mutations in 12 genes that are thought to be largely responsible for the onset of MS in families with multiple members with the disease.
These genes look like a beacon that illuminates the source of MS. "
Lead author Carles Vilariño-Güell, Assistant Professor, Department of Medical Genetics, Faculty of Medicine, University of British Columbia, and Michael Smith Scholar
Multiple sclerosis is a disease that affects the central nervous system. Immune system cells attack and damage the protective sheath of nerve cells. The disease often causes disability and can have a significant impact on the quality of life.
For this study, researchers sequenced all known genes in at least three MS patients from 34 families and examined genetic variants in family members with and without MS. By examining the genes of 132 patients, they identified 12 genetic mutations that could lead to a hyperactive autoimmune system that attacks myelin, the insulating layer surrounding the nerves of the brain and spinal cord.
It is thought that only 13% of people with MS have a genetic form of the disease, but it is estimated that people with the mutations identified in this new study would run up to 85% risk of developing MS during their lifetime. their life.
Vilariño-Güell aims to develop cellular and animal models with mutations identified in order to mimic the biological processes responsible for the onset of MS in patients, with the aim of developing a preventive treatment. of the disease.
We have treatments that treat the symptoms of MS, but not the causes. People with MS take medications that reduce attacks, but the disease is still progressing. Now, with the knowledge of these mutations, which suggest a common biological process leading to an increase in inflammation in families with MS, we can try to tackle the root causes. "
Carles Vilariño-Güell
The researchers hope that the results will one day lead to personalized treatments for multiple sclerosis patients and prevention strategies for those at increased risk of developing the disease.
Source:
University of British Columbia
Journal reference:
Vilariño-Güell, C. et al. (2019) Exome sequencing in multiple sclerosis families identifies 12 candidate genes and identifies biological pathways for the genesis of the disease. PLOS Genetics. doi.org/10.1371/journal.pgen.1008180.
[ad_2]
Source link
