Research in Umeå may explain ALS disease

This is a news article. It means that it tells you something about it. Events may change after the writing of the article.

"I'm surprised and, as a doctor of ALS, diagnose patients, I know it can be difficult to diagnose," says Peter Andersen, professor of neurology at the department of pharmacology and clinical neuroscience at the University. d & # 39; Umeå.

He studied 426 ALS patients, whose relatives were also infected, in collaboration with other researchers in Umeå and Germany, Ulm.

The change that they could see in the victims is in a gene called KIF5A. The researchers found marked disparities in the genes of patients with sporadic ALS and patients with familial ALS, that is, where the disease is known to the family.

As farmer Peter Andersen, the KIF5A compares to a long haul carrier carrying objects across the nerve cell. The deviation is that the vehicle has dropped half of its trailer, approximately from the rear axle, he says.

"If you close, E4 becomes a problem in society, and if you close here, there will be a problem in the cell.

Everyone wears the gene sitting on chromosome twelve, but the changes only affect a few and affect the back of the long looms. Previously, researchers found that three less common neurological diseases were due to KIF5A mutations, but in the anterior and central part. The result presented by the researchers is a new puzzle that partly answers the mystery of ALS, according to Peter Andersen.

"You can see that sick people have a change and those who are healthy have no change," he said.

May lead to medication Amyotrophic Lateral Sclerosis, or ALS, is an incurable nerve disease that results in paralysis of the body. The disease causes nerve cells in the brain and spinal cord that slowly control the muscles. The famous physicist Stephen Hawking is one of the people who gave a face to the disease.

A change in KIF5A is not an explanation for all people with ALS because there are many variants of the disease. But discovery can be important for the development of new drugs and provide more knowledge about nerve diseases.

"This can be attractive to the pharmaceutical industry because it is much easier to replace everything that is missing in the body than to work improperly," says Peter Andersen.

The study is published in the journal Brain.