Niemann-Pick type C (NPC) disease is a severe cell lipidosis characterized by the accumulation of unesterified cholesterol in the endosomal/lysosomal system. It is a lysosomal storage disorder that affects the viscera and the central nervous system which is caused by the accumulation of cholesterol in lysosomes (1). Niemann-Pick disease type C1 has a highly variable clinical phenotype and clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia (2).
In a recent study biochemical tests were done using brain and liver sub cellular fractions from mice using anti-NPCanti- antibodies to determine whether NPC1 and NPC2 might have unrelated functions within the lysosome in addition to their roles in cholesterol transport. Results obtained highlighted biochemical alterations in the lysosomal system of the NPC-mutant mice that appear secondary to lipid storage (3). Endolysosomal processing of cholesterol and other lipids as a contributing factor to the progression of a variety of diseases is a growing area of research.
Novus Biologicals offers various Niemann-Pick C1 reagents for your products research needs including:
