Chemical chaperones may treat defect

ST. LOUIS, Feb. 5 (UPI) -- A new U.S. study suggests chemical compounds could chaperone mutant proteins to overcome the genetic defect in Niemann-Pick disease.

Niemann-Pick type C disease is a recessive inherited trait that can originate in one of more than 200 mutations in the NPC1 gene, the Washington University School of Medicine said Monday in a news release.

The mutations lead to production of abnormal NPC1 protein. NPC1 protein plays an essential role in moving cholesterol out of cells. If the protein doesn't function, cholesterol and other lipids accumulate, the report said.

The accumulation of lipids in the liver, spleen, lungs, brain and bone marrow can result in death.

Research led by Dr. Daniel S. Ory said the disease and others like it might be successfully treated with chemical compounds that can compensate for the effect of the disease's underlying genetic mutation. The compounds, dubbed "chaperones" by Ory, might be able to help mutant protein molecules through the cells' quality control checkpoints so they can remove excess cholesterol.

The report, published online in the Journal of Biological Chemistry, said the approach might also be useful in treating cystic fibrosis.