了解尼曼-皮克病C型(NPC)的表型变异性:对精准医学的需求。

IF 4.7 2区 医学 Q1 GENETICS & HEREDITY NPJ Genomic Medicine Pub Date : 2023-08-11 DOI:10.1038/s41525-023-00365-w
Macarena Las Heras, Benjamín Szenfeld, Rami A Ballout, Emanuele Buratti, Silvana Zanlungo, Andrea Dardis, Andrés D Klein
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引用次数: 2

摘要

尼曼-皮克C型(NPC)病是一种溶酶体贮积病(LSD),其特征是由于NPC1和NPC2基因的功能突变丧失而导致内溶酶体胆固醇和鞘糖脂的积累。鼻咽癌患者可以呈现出广泛的表型谱,在发病年龄、进展速度、严重程度、受累器官、对中枢神经系统的影响,甚至对药物治疗的反应等方面都存在差异。本文综述了鼻咽癌的表型变异,并讨论了其可能的原因,如缺陷蛋白的剩余功能、修饰基因、性别、环境因素和剪接因素等。我们建议在设计或重新设计治疗方法时应考虑这些因素。尽管看起来很复杂,但考虑到人们对精准医疗的兴趣不断扩大,以及更容易获得多组学技术,这一主张并不牵强。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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

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.

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来源期刊
NPJ Genomic Medicine
NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology
CiteScore
9.40
自引率
1.90%
发文量
67
审稿时长
17 weeks
期刊介绍: npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.
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