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

التفاصيل البيبلوغرافية
العنوان: Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.
المؤلفون: Las Heras M; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, 7780272, Chile., Szenfeld B; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, 7780272, Chile., Ballout RA; Department of Pediatrics, University of Texas Southwestern (UTSW) Medical Center and Children's Health, Dallas, TX, 75235, USA., Buratti E; Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, 34149, Italy., Zanlungo S; Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, 8330033, Chile., Dardis A; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100, Udine, Italy., Klein AD; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, 7780272, Chile. andresklein@udd.cl.
المصدر: NPJ genomic medicine [NPJ Genom Med] 2023 Aug 11; Vol. 8 (1), pp. 21. Date of Electronic Publication: 2023 Aug 11.
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
أسماء مطبوعة: Publication: 2016- : [London] : Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University
Original Publication: [London] : Nature Publishing Group, published in partnership with Center of Excellence in Genomic Medicine Research, [2016]-
مستخلص: 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.
(© 2023. Springer Nature Limited and Centre of Excellence in Genomic Medicine Research, King Abdulaziz University.)
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معلومات مُعتمدة: CRP/CHL22-02 International Centre for Genetic Engineering and Biotechnology (ICGEB); CRP/CHL22-02 International Centre for Genetic Engineering and Biotechnology (ICGEB); CRP/CHL22-02 International Centre for Genetic Engineering and Biotechnology (ICGEB); 1230317 Fondo Nacional de Desarrollo Científico y Tecnológico (National Fund for Scientific and Technological Development); 1230337 Fondo Nacional de Desarrollo Científico y Tecnológico (National Fund for Scientific and Technological Development)
تواريخ الأحداث: Date Created: 20230811 Latest Revision: 20231119
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC10421955
DOI: 10.1038/s41525-023-00365-w
PMID: 37567876
قاعدة البيانات: MEDLINE
الوصف
تدمد:2056-7944
DOI:10.1038/s41525-023-00365-w