Altered vitamin E status in Niemann-Pick type C disease.

Aberrant Promoter Methylation Profile of Niemann-Pick Type C1 Gene in Cardiovascular Disease

Background: The protein of Niemann-pick type C1 (NPC1) gene promotes the egress of cholesterol from late endosomes and lysosomes to other cellular compartments and contributes to a process known as reverse cholesterol transport. This study aimed to examine whether promoter methylation of NPC1 is associated with risk of cardiovascular disease (CVD). Methods: Fifty CVD patients and 50 healthy sub...

بررسی یک مورد بیماری Niemann Pick تیپ A

Niemann Pick type A is a very rare hereditary disease with an incidence 1 in 20000-40000 live birth, which is calassified as a shingolipidoses. The disease is marked by the abnormal accumulation of sphingomyelin in most tissues, secondary to sphingomylinase deficiency. The most clinical manifestations are: Splenohepatomegaly–cherry red maculae-neuropathologic findings . This is a ...

indírectly via hypoxia-inducible factor, nitric oxide synthase and the heparan sulfate proteoglycan glypican-1, which is deglycanated in a vitamin C- and copper-dependent reaction. In fibroblasts from patients with Niemann-Pick C disease, heparan sulfate

Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease

Niemann-Pick type C (NPC) disease is a neurovisceral atypical lipid storage disorder involving the accumulation of cholesterol and other lipids in the late endocytic pathway. The pathogenic mechanism that links the accumulation of intracellular cholesterol with cell death in NPC disease in both the CNS and the liver is currently unknown. Oxidative stress has been observed in the livers and brai...

Vitamin E Dietary Supplementation Improves Neurological Symptoms and Decreases c-Abl/p73 Activation in Niemann-Pick C Mice

Niemann-Pick C (NPC) disease is a fatal neurodegenerative disorder characterized by the accumulation of free cholesterol in lysosomes. We have previously reported that oxidative stress is the main upstream stimulus activating the proapoptotic c-Abl/p73 pathway in NPC neurons. We have also observed accumulation of vitamin E in NPC lysosomes, which could lead to a potential decrease of its bioava...