ME Protein Discovery
15 August 2023
People living with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) struggle not only with extreme exhaustion and cognitive problems, but with a profound lack of information about what causes their symptoms and how to treat them. Scientists have yet to pin down the biology underlying the condition, which affects an estimated 250,000 people in the UK, and around 17 million people worldwide
Researchers have identified a protein that’s present at unusually high levels in the muscles of people with ME/CFS and that disrupts cells’ ability to generate energy. The findings, reported today in the Proceedings of the National Academy of Sciences, could point to new therapeutics for this condition and for illnesses that share similar characteristics, such as long Covid.
The study initially involved a 38-year-old woman with a cancer-promoting gene mutation. Unlike her brother and her father, who shared this mutation, the woman was experiencing extreme long-term fatigue, though she hadn’t received a formal ME/CFS diagnosis.
Tissue samples from her muscle revealed high levels of a protein called WASF3, which is known to play a role in a cell’s ability to move. This led researchers to wonder whether WASF3 was interacting with mitochondria, cellular compartments responsible for energy generation that have been suggested to malfunction in people with ME/CFS and long Covid.
By changing levels of WASF3 inside cultured cells from the woman in the study, as well as in other human and mouse cells, the team found the protein interfered with the assembly of mitochondrial proteins into molecular complexes that support normal energy production.
The researchers also compared muscle samples from 14 people living with the illness with those of 10 healthy individuals. They found higher average levels of WASF3, and lower levels of the associated mitochondrial protein complexes, in people with the condition.