Oxidative Stress in Niemann-Pick Disease Type C

Molecular Genetics and Metabolism recently published a new article titled, "Oxidative stress in Niemann-Pick disease, type C," from authors Fu R, Yanjanin NM, Bianconi S, Pavan WJ, Porter FD.

The article is summarized as follows:

Oxidative stress is caused by an imbalance between the production of reactive oxygen and a biological system's ability to detoxify the reactive intermediates or easily repair the resulting damage. Increased oxidative stress has been reported in human NPC1 mutant fibroblasts and in tissues from Npc1 mutant mice. However, oxidative stress in NPC patients has not been established. This study demonstrated increased oxidative stress in NPC patients.

Blood samples from 37 children and adults with NPC were tested. Compared to control values, the NPC samples showed significant decreases in both the fraction of reduced coenzyme Q10 (CoQ10) and Trolox equivalent antioxidant capacity (TEAC). Reduced CoQ10 functions as an antioxidant protecting cells from oxidative damage. Trolox is used as a reference substance to measure the combined antioxidant capacity in biological specimens. Both findings are consistent with increased oxidative stress in NPC. However, supplementation with CoQ10 was not effective in correcting the decreased fraction of reduced CoQ10. Demonstration of increased oxidative stress in NPC patients provides both a rationale and the biomarkers necessary to test the efficacy of antioxidant therapy in NPC.

Visit the NNPDF's Latest Research page for a link to the complete article or for more information about Niemann-Pick Disease.

Future Blood Test for Niemann-Pick C

Diagnosis of NPC May Soon be Done Via Blood Test

Niemann-Pick Disease Type C (NPC) may soon be diagnosed with a simple blood test, according to a report from the Washington University School of Medicine, St. Louis, Missouri, published recently in Science Translational Medicine.

Dr. Dan Ory of Washington University, and the chair of the NNPDF's Scientific Advisory Board (SAB), is one of the report's authors, along with Dr. Forbes "Denny" Porter, of the National Institutes of Health (NIH), also on the NNPDF's SAB; and Nicole Yanjanin, R.N., NIH, and on the NNPDF's Board of Directors; and others.

Visit Newswise for the complete story and video clip, which features Dr. Ory along with Nancy and Art Sullivan, parents of Karen Sullivan, who passed away from NPC in 2004, at the age of 33.

For more information about Niemann-Pick Disease and recent research news, visit the National Niemann-Pick Disease Foundation at www.nnpdf.org.