Normal hnRNPA2 stays in the nucleus of fly muscle cells (left) but mutant forms are found throughout the cytoplasm too (right)Source, J. Paul Taylor. Individuals with a rare inherited syndrome called multisystem proteinopathy (MSP) harbor misbehaving proteins that fold incorrectly, change the shape of surrounding proteins, and clump together—much the way disease-causing prions do. The results, published today in Nature, suggest that the 250 or so human proteins with similar prion-like domains may also be involved in diseases of the brain or other organs.
“It is a strong paper,” said Lary Walker from Emory University, who studies the role of misfolded proteins in Alzheimer’s disease and was not involved in the work. “They make a compelling case for the involvement of these mutant proteins in disease.”
“It is likely that seeded protein aggregation will turn up in many more diseases of the brain and elsewhere,” he added. “RNA-binding proteins, and proteins with prion-like domains in general, are a good place to start the search.”
People with MSP suffer from a steady loss of brain, muscle, and bone tissue, as well as motor neurons. They experience the joint symptoms of several diseases, such as Lou Gehrig’s disease (ALS), Paget’s disease of bone, and frontotemporal dementia.
The causes of MSP are ...
