Major hurdle crossed in rare disease

Researchers have pinpointed two compounds in blood that together act as reliable biomarkers for Niemann-Pick Type C disease -- a step that could make it easier to screen new therapies and diagnose the disease early, when treatment will help most.

Normal lysosomes (pink) and those that lack NPC1 (purple, because they are full of cholesterol). Image: Washington University in St. Louis

"We've found markers that are, on average, increased nearly ten-fold relative to normal counterparts," last author linkurl:Daniel Ory;http://dbbs.wustl.edu/rib/oryDANS of Washington University School of Medicine told The Scientist. "That's huge."The biomarkers distinguished NPC, a fatal disease that disrupts cholesterol trafficking, from other phenotypically similar diseases. "We've identified correctly every NPC1 case that's been sent to us." Moreover, the markers were detectable before symptoms appeared in mice, and, in humans, were correlated with both severity and how long people had exhibited symptoms.As a result, researchers may be able to quantify the...