Genetic and Epigenetic Insights into Werner Syndrome.

IF 1.7 4区 生物学 Q4 CELL BIOLOGY
Elena Paccosi, Diletta Guzzon, Luca Proietti-De-Santis
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引用次数: 0

Abstract

Background: Werner syndrome is an autosomal recessive disorder characterized by premature aging and cancer predisposition, caused by loss of function mutations in WRN gene. To date, more than 70 different pathogenic variants have been identified across the WRN locus, with an increasing number of newly reported mutations. Even if the clinical phenotypes of WS seem to be indistinguishable among the different WRN mutation types, a certain genotype/phenotype correlation has been identified, especially regarding the predisposition to certain type of malignant disease. Along this line, the knowledge of the genetic aspects related to WRN is a fascinating land still object of intensive studies. Summary and Key Messages: In this review, we discuss both the genetic and epigenetic regulations of the WRN gene, with a special focus on the pathogenic variants that have been identified in the WRN locus across different populations. Indeed, we think that investigating these aspects is the basis starting from which is it possible to depict WRN role in aging and cancer development processes, with the final goal of opening new perspectives for future therapeutic strategies directed to the treatment not only of this syndrome, for which, to date, there is no cure, but also of many types of malignant diseases and all those disturbs related to the physiological aging.

遗传学和表观遗传学对维尔纳综合征的见解。
背景:Werner综合征是一种常染色体隐性遗传病,由WRN基因功能突变缺失引起,以早衰和癌症易感性为特征。迄今为止,已经在WRN基因座上发现了70多种不同的致病变异,新报道的突变数量也在不断增加。即使WS的临床表型在不同的WRN突变类型之间似乎无法区分,但已经确定了一定的基因型/表型相关性,特别是在某些类型的恶性疾病的易感性方面。沿着这条路线,与自然资源网络有关的遗传方面的知识是一个令人着迷的领域,仍然是深入研究的对象。摘要和关键信息:本文讨论了WRN基因的遗传学和表观遗传学调控,特别关注了在不同人群中WRN基因座中发现的致病变异。事实上,我们认为研究这些方面是可能描述WRN在衰老和癌症发展过程中的作用的基础,最终目标是为未来的治疗策略开辟新的视角,不仅针对这种综合征的治疗,迄今为止,还没有治愈方法,而且针对许多类型的恶性疾病和所有与生理衰老相关的紊乱。
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来源期刊
Cytogenetic and Genome Research
Cytogenetic and Genome Research 生物-细胞生物学
CiteScore
3.10
自引率
5.90%
发文量
25
审稿时长
1 months
期刊介绍: During the last decades, ''Cytogenetic and Genome Research'' has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of its papers have centered on genome research, including gene cloning and sequencing, gene mapping, gene regulation and expression, cancer genetics, comparative genetics, gene linkage and related areas. The journal also publishes key papers on chromosome aberrations in somatic, meiotic and malignant cells. Its scope has expanded to include studies on invertebrate and plant cytogenetics and genomics. Also featured are the vast majority of the reports of the International Workshops on Human Chromosome Mapping, the reports of international human and animal chromosome nomenclature committees, and proceedings of the American and European cytogenetic conferences and other events. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research.
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