Unraveling ALS: A Genetic Look at SOD1 in India

In India, a recent study dug deep into the genetic roots of a specific type of amyotrophic lateral sclerosis (ALS), focusing on the SOD1 gene. ALS is a tough disease that affects nerve cells. The study looked at 765 people and found that 37 of them had SOD1-related ALS. That's about 4. 8% of the group. These 37 people came from 33 families, making up a big chunk (24. 2%) of familial ALS cases in the study. Most of the people in the study were men, with a ratio of 1. 64:1. They started showing symptoms at an average age of 41. 9 years, but this varied a lot. The study found 23 different harmful or likely harmful SOD1 gene changes, including four new ones never seen before.One surprising finding was that six patients had two copies of the same harmful gene change (homozygous variants). These patients tended to get sick earlier than others. Most people in the study first noticed symptoms in their legs (67. 6%) and had a type of ALS that mainly affects the lower motor neurons. The study also looked at how long people lived after being diagnosed. Some gene changes, like H47R, V88M, and I152N, were linked to longer survival. But people who got sick very young (juvenile onset) didn't live as long. This study is the first big look at SOD1-related ALS in India. It shows that the genetic makeup of ALS in India is unique, with a higher number of people having two copies of the harmful gene. The study also helps connect specific gene changes to how the disease shows up and progresses.