Gene Variant Could Lead to New Treatments for Multiple Sclerosis


Naturally-occurring genetic variants may improve autoimmune disease treatment.

Scientists in a recent study found that the human immune system may have an innate way to fight multiple sclerosis and other autoimmune diseases.

In patients with autoimmune diseases, such as multiple sclerosis, rheumatoid arthritis, and inflammatory bowel disease, the immune system attacks the body, and causes serious adverse effects that can become permanent if not properly treated.

Current treatments for autoimmune diseases often involve weakening the immune system, which can be dangerous if a pathogen is introduced during treatment. Since these patients already have a dysfunctional immune system, inhibiting them even further could lead to serious adverse events for patients.

Investigators examined naturally-occurring genetic variants that affect biological mechanisms to determine the effect of these variations on the related gene, according to the study published by Science Translational Medicine.

Specifically, researchers examined how a variation affected the TYK2 gene, which produces the TYK2 protein. This protein assists the body in fighting off infections and cancer, but it can also encourage autoimmune diseases.

It was discovered that 1 genetic variant of TYK2 protects against autoimmune diseases. This effect is due to the change in the TYK2 protein that reduces its function. This change also decreases the activity of immune cells that can promote disease development, according to the study.

The investigators suggest that their findings could lead to a drug that mimics the impact of the variant. This drug could potentially be used to make treatments for autoimmune diseases that do not dampen the immune system.

New treatments would be especially beneficial for patients with multiple sclerosis, since the resulting demyelination of the nerves, along with some axonal injury, causes a variety of mental and physical changes in patients.

The cause of the disease is unknown, but it is thought to involve both genetic and environmental causes. Patients with multiple sclerosis would likely benefit from these new treatments since there is no cure, and many patients are resistant to treatment with interferon-beta.

“While our research indicates that TYK2 could be a good drug target for treating autoimmune diseases, drugs that block the activity of immune cells have been known to leave patients vulnerable to infections and to increase the risk of cancer,” said lead researcher Lars Fugger, MD, PhD. “However, by interrogating data available through the UK Biobank, the most comprehensive health study in the UK, we found that people carrying the protective TYK2 genetic variant were no more likely to have serious infections or to develop cancer than people without the variant.”

Related Videos
Image credit:  Chanintorn.v | - PTSD Mental health concept, Psychologist sitting and touch hand young depressed asian man for encouragement near window with low light environment.Selective focus.
Image credit: сергей костюченко | - human head with brain
Health care provider examining MRI images of patient with multiple sclerosis -- Image credit: New Africa |
Human brain digital illustration. Electrical activity, flashes, and lightning on a blue background. | Image Credit: Siarhei -
© 2024 MJH Life Sciences

All rights reserved.