Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Niemann-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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421955 | PMC |
| http://dx.doi.org/10.1038/s41525-023-00365-w | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Progress of scRNA-seq technology in nasopharyngeal carcinoma research].
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
September 2025
Radiology Department of Guangxi Medical University Affiliated Cancer Hospital，Nanning，530021，China.
Nasopharyngeal carcinoma（NPC） is a distinct type of head and neck cancer closely associated with Epstein-Barr virus（EBV） infection and exhibits significant geographic variations in its incidence. Despite recent advancements in radiotherapy techniques and precision medicine for NPC, the overall survival rate remains unsatisfactory due to tumor metastasis, recurrence, and drug resistance. Single-cell RNA sequencing（scRNA-seq） is an emerging technology that allows for the analysis of gene expression at single-cell resolution, providing a clearer understanding of tumor cell subpopulations, the evolutionary trajectory of tumor cells, and the functional roles and interactions of cells within the tumor microenvironment.
View Article and Find Full Text PDFKetogenic Diet in Niemann-Pick Type C: Insights From a Case Report.
Int J Dev Neurosci
October 2025
Department of Inherited Metabolic Disorders, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey.
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder characterized by progressive neurological deterioration. Although there is no curative treatment, early initiation of miglustat, prior to significant neurological decline, may slow disease progression. This case report describes a patient whose initial symptoms emerged around age 9 and who was diagnosed with NPC at age 14 following gradual neurological decline.
View Article and Find Full Text PDFGene Expression Profile of the Cerebral Cortex of Niemann-Pick Disease Type C Mutant Mice.
Genes (Basel)
July 2025
Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Campus Guadalajara, Zapopan 45201, Mexico.
Background/objectives: Niemann-Pick disease Type C (NPC) represents an autosomal recessive disorder with an incidence rate of 1 in 100,000 live births that belongs to the lysosomal storage diseases (LSDs). NPC is characterized by the abnormal accumulation of unesterified cholesterol, in addition to being an autosomal recessive inherited pathology, which belongs to LSDs. It occurs in 95% of cases due to mutations in the NPC1 gene, while 5% of cases are due to mutations in the NPC2 gene.
View Article and Find Full Text PDFClinical characteristics and treatment outcomes in patients with Niemann-Pick disease type C (NP-C): a cross-sectional study.
Orphanet J Rare Dis
August 2025
Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Niemann-Pick disease type C (NP-C) is a rare autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration. This study aimed to characterize the clinical features and treatment outcomes of NP-C in Iranian patients.
Methods: We conducted a cross-sectional study of 58 patients with NP-C diagnosed between March 2013 and March 2024 at Mofid Children's Hospital, Tehran.
Heterozygosity in NPC may be associated with neurologic and systemic phenotypes.
Front Neurol
August 2025
INSPIRE-PNRM+, Neuroimaging Center (NIC), University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
Background: Niemann-Pick disease type C (NPC) is a pan-ethnic, progressive, recessively inherited lysosomal disorder that affects 1:100,000 live births. Emerging biochemical, genetic, and clinical evidence challenges the traditional view that disease-associated variants in the genes associated with the typical phenotype NPC manifest as an exclusively autosomal recessive disorder. While biallelic pathogenic variants cause the NPC disease phenotype, heterozygous carriers may exhibit phenotypic traits attributable to a partial loss of or function.
View Article and Find Full Text PDF