A review of the promising new advances in the combat against cholesterol trafficking defect and consequent occurrence of the rare Niemann-pick type C disease

Abstract

The rare, often neglected, and incurable Niemann Pick Type C (NPC) disease is an ailment that can occur in any community around the world, and a large portion of the patients affected is relatively young. The debilitating progressive neurodegeneration is the primary and eventual cause of death for NPC patients. Since NPC still remains incurable, extensive focus and considerable effort are mandated from researchers in the biomedical sciences to combat its many intricacies; specifically because of the ambiguous nature as to why the disruption in basic cellular lipid i.e. fat homeostasis leads to such devastating neurological consequences for NPC patients. Further studies are warranted in order to identify or somewhat lessen the nebulous correlation between lipid trafficking defects and the clinical manifestations of NPC. Many neuronal and non-neuronal studies have been done on lipid trafficking alterations in order to advance this line of research and the purpose of this review is to summarize recent studies and triage the more important aspects, as of right now, that need to be focused on for near-future research considerations. Considering the lack of diagnosed patients and the fact that there is no clearly effective treatment for NPC it is imperative that researchers be apprised on the happenings and be up to date on potential therapeutic targets, agents and strategies that might be available to them now or the near future. A better understanding of this disease and the evaluation of recently explored potential treatment options would have a significant effect on the therapy and management of NPC patients in the coming future.