Scientists at London’s University College and a team of scientists at Stanford University simultaneously made the same discovery about amyotrophic lateral sclerosis (ALS): the genetic variant in the protein UNC13A is associated with shorter overall survival (OS). Their reports, published in StatNews this week, were also published in the journal Nature.

Both teams of researchers discovered that if a molecule responsible for the processing of RNA is defective, cells will produce faulty versions of UNC13A. The UNC13A protein affects neuron signaling. ALS patients with more copies of the genetic variants that are in UNC13A will have a high level of the defective protein and a decrease in OS.

Clumps of the Key Protein

The researchers found a common occurrence in ALS patients in the form of knotted clumps of displaced protein. These clumps were normally found in the cells’ nuclei.

The clumps are outward signs of ALS. Scientists have been fascinated with the subject. The aforementioned studies may uncover the mystery.

Both studies indicate that a correction of protein production in patients with ALS may be an effective strategy. The first step would be to determine the number of proteins needed as targets and the most constructive approach.

Geneticist and senior study author Aaron Gitler commented that as a result of the studies, the researchers have a better understanding of ALS. They also have a path towards the design and testing of a new therapy. He added, however, that there is still a long road ahead.