Biomarkers for Niemann-Pick C1 Disease Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based

tables on cholesterol by using its oxidation products to diagnose and treat the disease in its earliest stages. drug efficacy. Free cholesterol may be at the root of Niemann-Pick C1 disease, but now, there is a way to turn the markers of early clinical disease and can be used not only to monitor disease progression but also to demonstrate or diabetes. Together, these compelling results suggest that the two oxysterol molecules are accurate diagnostic Niemann-Pick C1 patients than in age-matched healthy controls or those with other diseases such as atherosclerosis demonstrated that the blood concentrations of two related oxysterol molecules were almost 10 times higher in experimental drug cyclodextrin. But could oxysterols be used as biomarkers in the human disease? The investigators elevated concentrations of the two oxysterols and ameliorate disease symptoms by treating the animals with the exhibit similar disease symptoms and progression as human patients, Porter and coworkers were able to decrease of these two oxysterols increased as the disease progressed. Moving into cats carrying an NPC1 mutation, which concentrations elevated in the plasma and tissues of the sick mice but not their healthy counterparts. Furthermore, the Working in mice lacking the Npc1 gene, the researchers quickly identified two oxysterols that were markedly (oxysterols) might be the long-sought biomarkers for Niemann-Pick C1 disease. associated with increased oxidative stress, these investigators reasoned that cholesterol oxidation products also to monitor the effectiveness of new drugs. On the basis of reports that aberrantly deposited free cholesterol is and coworkers to search for possible molecules in the blood that could be used for early diagnosis of the disease and diseases, and thus, intervention in the form of a drug such as miglustat often comes too late. This prompted Porter death during adolescence. The early symptoms of the disease are often difficult to distinguish from other childhood central nervous system, the death of neurons, and increasing motor and intellectual impairment, usually resulting in cholesterol and lipids in the endolysosomal system of cells. This leads to aberrant deposition of free cholesterol in the Niemann-Pick C1 disease is caused by mutations in the NPC1 or NPC2 proteins that result in mishandling of Niemann-Pick C1, a childhood neurological disease that is usually fatal. tissue damage has been done. In a new study, Porter and colleagues set out to identify blood biomarkers for other therapeutic interventions have the best chance of halting or reversing the course of the disease before major indicators of a disease that is already silently under way. By detecting the disease in its earliest stages, drugs and A big push in disease research is to identify biochemical markers (biomarkers) in the blood that are early