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Understanding and Treating Niemann–Pick Type C Disease: Models Matter

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 (N...

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Detalles Bibliográficos
Autores principales: Pallottini, Valentina, Pfrieger, Frank W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7730076/
https://www.ncbi.nlm.nih.gov/pubmed/33256121
http://dx.doi.org/10.3390/ijms21238979
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author Pallottini, Valentina
Pfrieger, Frank W.
author_facet Pallottini, Valentina
Pfrieger, Frank W.
author_sort Pallottini, Valentina
collection PubMed
description 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.
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spelling pubmed-77300762020-12-12 Understanding and Treating Niemann–Pick Type C Disease: Models Matter Pallottini, Valentina Pfrieger, Frank W. Int J Mol Sci Review 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. MDPI 2020-11-26 /pmc/articles/PMC7730076/ /pubmed/33256121 http://dx.doi.org/10.3390/ijms21238979 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Pallottini, Valentina
Pfrieger, Frank W.
Understanding and Treating Niemann–Pick Type C Disease: Models Matter
title Understanding and Treating Niemann–Pick Type C Disease: Models Matter
title_full Understanding and Treating Niemann–Pick Type C Disease: Models Matter
title_fullStr Understanding and Treating Niemann–Pick Type C Disease: Models Matter
title_full_unstemmed Understanding and Treating Niemann–Pick Type C Disease: Models Matter
title_short Understanding and Treating Niemann–Pick Type C Disease: Models Matter
title_sort understanding and treating niemann–pick type c disease: models matter
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7730076/
https://www.ncbi.nlm.nih.gov/pubmed/33256121
http://dx.doi.org/10.3390/ijms21238979
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