Abstract
Biomedical research aims to understand the molecular mechanisms causing human diseases and to develop curative therapies. So far, these goals have been achieved for a small fraction of diseases, limiting factors being the availability, validity, and use of experimental models. Niemann–Pick type C (NPC) is a prime example for a disease that lacks a curative therapy despite substantial breakthroughs. This rare, fatal, and autosomal-recessive disorder is caused by defects in NPC1 or NPC2. These ubiquitously expressed proteins help cholesterol exit from the endosomal–lysosomal system. The dysfunction of either causes an aberrant accumulation of lipids with patients presenting a large range of disease onset, neurovisceral symptoms, and life span. Here, we note general aspects of experimental models, we describe the line-up used for NPC-related research and therapy development, and we provide an outlook on future topics.
Highlights
The prime purpose of biomedical research is to understand the molecular underpinnings of human diseases enabling the development of curative therapies
The Niemann–Pick type C (NPC) field has developed a gang of models that matter as they revealed the origin of the disease, provided important insight in disease mechanisms, and helped to explore new diagnostic and therapeutic approaches
The publication record indicates a clear preference for NPC1, mice, and fibroblasts as gene, animal, and cell of choice, respectively
Summary
The prime purpose of biomedical research is to understand the molecular underpinnings of human diseases enabling the development of curative therapies. Sci. 2020, 21, 8979 are unable to feel pain and that they resemble machines [65] These views changed during the age of enlightenment: In 1789, the philosopher and jurist Jeremy Bentham was one of the first to raise the issue of animal protection by stating: “The question is not, Can they reason? Examples include pharmacologically-induced diabetes in rodents and rabbits [71,72], Parkinson-like symptoms in non-human primates [73] and autism-like behavior in rats (Rattus norvegicus) [74]. The model accurately recapitulates key aspects of the disease of interest, for example pathologic changes in cells or symptoms of patients. Disease models based on cultured cells have seen a remarkable renaissance due to the possibility of generating specific human cells from patient-derived induced pluripotent stem cells [101]. A recent article exemplifies this new approach going from in vitro data to retrospective analysis of clinical data exposing a possible treatment [102]
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