A group of specialists discovered for the first time a genetic variant that causes multiple sclerosis to progress more rapidly. This causes sufferers of the disease to lose their mobility and independence. These findings create the possibility of discovering effective treatments to help sufferers of the disease.
Scientists from different nationalities join forces to analyze Multiple Sclerosis.
The study was conducted under the sponsorship of the University of California, San Francisco, USA, and the University of Cambridge, UK. However, the research was published in the journal Nature and received the collaboration of more than 70 specialized institutions from all over the world. The researchers analyzed around 22,000 cases of multiple sclerosis in a human genome-wide association study. The aim was to identify variants in the genome that are statistically associated with the risk of suffering from the disease.
Patients who inherited the disease from one or both of their parents lost their mobility in an average of four years. Scientists discovered a genetic variant that accelerates disease progression in this group of patients.
Very valuable discovery to treat the disease from now on.
This is important for developing new therapies to treat multiple sclerosis. The identified genetic variant lies between two genes, one that repairs damaged cells and another that is involved in disease control. Both genes are active in the spinal cord and brain.
According to the researchers, the progression of the disease depends radically on how well the brain manages to defend itself against attacks by the immune system. Multiple sclerosis is a progressive disease.
By mistake, the immune system attacks the brain and spinal cord. These attacks cause damage to myelin, which is the protective substance that covers the nerve fibers. This interferes with the transmission of nerve impulses.
The person suffering from multiple sclerosis feels fatigue, memory loss, numbness, pain, visual disturbances and paralysis. It is a disease where relapses are frequent, although the frequency depends on each patient. There are even people who live with the disease without noticing even one symptom throughout their lives.
For the time being, the genetic variant discovered only serves to assess the risk of people to develop the disease. Nevertheless, it is a giant step towards the development of an effective therapy.
At present, treatments and drugs exist to treat symptomatology, but not to halt the progression of the disease. For this reason, in many patients, multiple sclerosis progresses more rapidly than in others. By identifying the genome, it is possible to develop therapies and drugs to slow progression and not just for symptoms.