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Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

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dc.contributor.authorLas Heras, Macarena
dc.contributor.authorSzenfeld, Benjamín
dc.contributor.authorBallout, Rami A.
dc.contributor.authorBuratti, Emanuele
dc.contributor.authorZanlungo, Silvana
dc.contributor.authorDardis, Andrea
dc.contributor.authorKLEIN, ANDRES
dc.date.accessioned2023-08-17T20:56:24Z
dc.date.available2023-08-17T20:56:24Z
dc.date.issued2023
dc.description.abstractNiemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss of function mutations in the NPC1 and NPC2 genes. NPC patients can present with a broad phenotypic spectrum, with differences at the age of onset, rate of progression, severity, organs involved, effects on the central nervous system, and even response to pharmacological treatments. This article reviews the phenotypic variation of NPC and discusses its possible causes, such as the remaining function of the defective protein, modifier genes, sex, environmental cues, and splicing factors, among others. We propose that these factors should be considered when designing or repurposing treatments for this disease. Despite its seeming complexity, this proposition is not far-fetched, considering the expanding interest in precision medicine and easier access to multi-omics technologies.
dc.description.versionVersión publicada
dc.format.extent13 p.
dc.identifier.citationLas Heras, M., Szenfeld, B., Ballout, R.A. et al. Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine. npj Genom. Med. 8, 21 (2023). https://doi.org/10.1038/s41525-023-00365-w
dc.identifier.doihttps://doi.org/10.1038/s41525-023-00365-w
dc.identifier.urihttps://repositorio.udd.cl/handle/11447/7918
dc.language.isoen
dc.subjectNiemann-Pick type C (NPC) disease
dc.titleUnderstanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
dc.typeArticle
dcterms.accessRightsAcceso abierto
dcterms.sourcenpj Genomic Medicine
dspace.entity.typePublication
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relation.isAuthorOfPublication.latestForDiscoveryc1e7074e-9371-438f-ac60-64cc46fca1c5

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