Detecting 2 genes that cause multiple sclerosis

Scientists have discovered two genes that can increase the risk of multiple sclerosis by up to 30%. This research result is an important breakthrough, breaking the deadlock in understanding the mechanism of disease during the past three decades.

Two genes with multiple sclerosis (MS) variant have been detected as interleukin-7 alpha (IL7-R) in chromosome 5 and interleukin-2 alpha (IL2-R) on chromosomes No. 10.

This discovery is a great result of two large-scale studies conducted by US scientists and Cambridge University, England.

Genetic variants increase risk by 20-30%

The discovery of two genes IL7-R and IL2-R is the biggest breakthrough during the past 3 decades of multiple sclerosis.(Photo: Daily Mail)

IL7-R has the role of guiding and controlling the activity of T-immune cells - ' guards ' that prevent external agents from entering the body. Meanwhile, IL2-R is associated with two autoimmune diseases: type 1 diabetes and thyroid disease.

According to the study results, a single change in the genetic code of the IL7-R gene and two changes in the IL2-R gene will produce dangerous variants. Each such variant has the potential to increase the risk of MS by 20-30%.

Experts looked at the entire genome of more than 12,360 people - both MS and healthy people - and used a variety of techniques to find genes that could cause disease.

In MS, T-immune cells produce particles that attack and destroy the myelin covering the nerve cells, causing tiny holes in the brain. This class of myelin is used by scientists such as a plastic shell to protect electrical cables.

When the myelin layer is damaged, a " short circuit " occurs in the body's signaling system, meaning that the nerve signals slow down or are completely blocked.

As a chronic disease of the nervous system, MS begins with brain damage, primarily the decline of chemicals in the brain. Some symptoms of the disease include memory loss, weakness, fatigue, muscle weakness or paralysis, dizziness, stuttering, vision problems and difficulty moving and balance.

The effects of MS often affect patients for a long time, causing cardiovascular problems, chest pain, increasing the risk of asthma, etc. The disease usually occurs in people under age 55, more common in women than men.

Researchers from both groups believe that both environmental and genetic factors play an important role in developing MS - the disease that affects 2.5 million people worldwide, particularly in the United States. is 350,000 people.

Open up opportunities to develop new therapies

Scientists hope that this discovery will help them soon find new therapies to treat multiple sclerosis.(Photo: Med.umich.edu)

From the mid-70s to the present, after only one gene variant has been detected on chromosome 6 - known as Major Histocompatibility Complex (MHC), it plays a role in regulating the immune system - scientists have stomped their feet. in place to understand the mechanism of disease because it is impossible to identify genes that are important for causing MS.

Therefore, the results of recent research have brought great hope for scientists to find out soon therapies to treat this disease.

Molecular geneticist Simon Gregory, of Duke University in Durham, North Carolina, who participated in the discovery of IL7-R, said: 'Our findings are important, because of genetic factors. Related to previously known MS disease only explains less than 50% of the genetic basis of this disease.

Dr. Stephen Hauser, professor of neurology at the University of California in San Francisco, emphasized: 'This is the first big step we have made in the last 30 years. This discovery will take us into a new research direction to understand the mechanism that gives rise to MS disease, and when we grasp that mechanism, we can find therapies to treat this disease. ' .

According to neurologist Stefansson, because it is impossible to predict the course of the disease, it is difficult to conduct clinical trials.'But when we have discovered the gene variants that cause disease, we will be motivated to conduct long-term and expensive clinical trials'.

Meanwhile, Dr. David Hafler, of Harvard Medical School, said excitedly: 'This discovery is extremely significant in developing new therapies for treating MS'.

The two studies are published simultaneously in the electronic edition of Nature Genetics and New England Journal of Medicine.

Quang Thinh

According to AFP, Reuters, International Herald Tribune, VietNamNet