Scientists Discover the Gene Responsible for This Rare Brain Disorder

gene mutations that are responsible for PSP

Recent discoveries shed a new light on progressive supranuclear palsy (PSP). This rare disease can seriously affects the patient’s ability to think and walk.

Scientists discovered gene mutations that are responsible for PSP. This could help us understand this debilitating condition better.

What is PSP?

PSP, or progressive supranuclear palsy, is a brain disorder that is the result of nerve-cell damage in the brain. The disease progresses and causes weakness because it affects nerve cells in the brain.

PSP affects movement, balance, speech, vision, and more. It can also change the patient’s behavior and mood. Although the symptoms can vary, slow eye movement is usually the first indicator of PSP.

Unfortunately, as of this writing, there is no effective treatment for this disease. PSP does not respond to any known treatment, including medications for Parkinson’s disease.

However, it is a rare disease that affects a very small number of people. 3-6 of every 100,000 people in the world are struck by PSP. Men and those above 60 years of age are the most vulnerable.

Why is the Research Significant?

A team of Japanese scientists identified mutations of the bassoon gene as the cause of PSP. They studied genomes of Japanese families whose members showed symptoms of PSP. Also, several other genetic disorders were identified in these patients.

PSP is very similar to Parkinson’s disease and can sometimes be hard to diagnose. Speech problems are more common with PSP and the abnormal eye movement is almost non-existent in Parkinson’s disease.

Understanding these mutations and how they are responsible for neurological conditions may help the scientists diagnose the disease with better accuracy.

Final Thoughts

Genetics is one of the greatest frontiers of science that might give us a chance to fight some terminal diseases. Identifying the gene mutations that are responsible for PSP could be one step closer to a cure or prevention.