The FUS involved in ALS

A chance meeting may be what’s keeping a man alive after his siblings and mother all died from ALS. Amyotrophic lateral sclerosis is a disease that attacks nerves in the brain and spinal cord leading to loss of muscle control.  

Jeff’s mother and 3 aunts had all died from ALS by the time he met scientists presenting on ALS research in Barbados. Two years later, his sister Erin began showing clinical symptoms, and Jeff called the scientists who connected him to a doctor studying genetic forms of ALS.  

Most causes of ALS are unknown except for the rare 10 percent of inherited forms, but in all patients, muscle weakness spreads until the person can’t talk, walk, eat or even breathe. And there is no cure.   Jeff and his two sisters Erin and Leigh learned they all carried an FUS gene mutation that causes nerve damage and leads to an aggressive form of ALS.  Luckily, Jeff’s doctor had been working on an experimental treatment called ulefnersen to silence the FUS gene. It reduces the levels of FUS protein in the brain and spine and delays nerve degeneration.  

When Jeff, Erin and Leigh started in the clinical trial of ulefnersen, the sisters were already showing signs of nerve damage, but Jeff did not. Erin’s ALS progressed even on the drug and she died after three years. After four years on it, Leigh died of an unrelated head injury.   After three years on the drug, Jeff was still symptom free, maybe because he started treatment before showing any symptoms. Let’s hope so and give patients like Jeff a chance at a normal life.