Rare diseases can help answer questions about cell biology and common health problems.
Take sialidosis. It’s caused by mutations in the gene encoding the lysosomal enzyme NEU1. Deficiency of this enzyme disrupts the normal function of muscles and many other organs. As many as 1-4 people per 200,000 inherit this catastrophic childhood disease.
Her team recently linked another health problem with NEU1 deficiency: Fibrosis.
Fibrosis is the build-up of connective tissue in the heart, lung and other organs. This disorder interferes with organ function. The cause is often unknown.
The scientists found how NEU1 deficiency fuels the expansion of connective tissue into muscle and other organs.
“The results suggest that NEU1 may be helpful for identifying those at risk for developing fibrosis or monitoring its progression,” d’Azzo said.
A report on this work appeared in the journal Science Advances.