article A gene that plays a central role in the development of amyotrophic lateral sclerosis (ALS) has been mutated, according to a report in the New England Journal of Medicine.
Researchers in Australia and Italy say they discovered the mutation in mice with the disease, which is characterized by loss of motor function and weakness.
Mice lacking the beta-2 microglobulins protein were protected against the disease’s severe complications, but also had increased risk of the disease developing into ALS, researchers said.
Mutation in the beta2 gene also caused an increase in activity of a protein involved in motor function, researchers found.
“This discovery has implications for understanding how ALS develops and leads to the disease in the first place,” said lead author Elizabeth T. Smith, PhD, a professor of medicine at the University of Queensland.
Smith and her colleagues were not able to replicate the mutation directly.
The gene for alpha-1-microglycoprotein was originally isolated from mice.
The scientists also identified a variant that encodes a protein known as c-MHC.
That variant causes the disease and increases the activity of that protein.
Smith said the mutation was the first to be identified in the animal kingdom.
Researchers found the mutation after analyzing the genomes of mice with and without ALS.
The mutation is caused by a mutation in a gene in the microglobin gene, which codes for an enzyme called alpha-MGC-MUC5.
Researchers say the mutation protects the mice against the onset of the ALS-like symptoms of ALS, including muscle weakness, muscle weakness in the lower extremities, and weakness in joint and muscle activity.
The microgloblins proteins are essential to the body’s immune system, helping to regulate immune function and prevent inflammation, according a press release from the University Health Network in Australia.
The disease affects about 2.4 million people worldwide, including about 10,000 in Australia, according the ALS Association.
The ALS Association says about 50,000 people in Australia have been diagnosed with the disorder, which affects more than 20 million people.