[Genetic diseases of epigenetic machinery].

IF 0.6 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL M S-medecine Sciences Pub Date : 2024-12-01 Epub Date: 2024-12-20 DOI:10.1051/medsci/2024181
Maud de Dieuleveult, Guillaume Velasco
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引用次数: 0

Abstract

The development of sequencing technologies and their increased accessibility in clinical services and genetic laboratories have considerably accelerated the identification of genetic variants associated with rare diseases (RDs). Among these, Mendelian disorders of the epigenetic machinery (MDEM) are rare monogenic diseases characterized by the presence of mutations in genes encoding epigenetic regulators that play a key role in organismal development and cellular functions. Loss of function of these regulators is expected to lead to epigenetic modifications that profoundly affect genome expression and cellular identity. Disruptions in DNA methylation profiles have been documented in MDEMs, emerging as a useful diagnostic tool. The current challenge is to determine whether and how these epigenomic alterations drive the mechanisms underlying the clinical manifestations in patients suffering from this class of diseases. Studying MDEMs may therefore shed light on the important role of epigenetic information in health and disease, particularly the mechanisms involved in the development and understanding of complex pathologies, such as neurodevelopmental disorders and cancer.

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[表观遗传机制的遗传性疾病]。
测序技术的发展及其在临床服务和遗传实验室中的可及性的增加大大加快了对与罕见疾病有关的遗传变异的鉴定。其中,孟德尔表观遗传机制障碍(MDEM)是一种罕见的单基因疾病,其特征是编码表观遗传调控因子的基因存在突变,这些调控因子在生物体发育和细胞功能中起关键作用。这些调节功能的丧失预计会导致深刻影响基因组表达和细胞身份的表观遗传修饰。DNA甲基化谱的中断已在mdem中被记录,并作为一种有用的诊断工具出现。目前的挑战是确定这些表观基因组改变是否以及如何驱动这类疾病患者临床表现的潜在机制。因此,研究mdem可以揭示表观遗传信息在健康和疾病中的重要作用,特别是涉及复杂病理(如神经发育障碍和癌症)发展和理解的机制。
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来源期刊
M S-medecine Sciences
M S-medecine Sciences 医学-医学:研究与实验
CiteScore
0.80
自引率
14.30%
发文量
182
审稿时长
4-8 weeks
期刊介绍: m/s offers high-quality review articles in French, covering all areas of biomedical and health research, in a monthly magazine format (10 issues / year). m/s is read by the whole French-speaking community, in France but also in Belgium, Switzerland, Canada, Morocco, Algeria, Tunisia etc. m/s is not a primary publication, and thus will not consider unpublished data. Most articles are invited by the Editors, but spontaneous proposals are welcomed. Each issue combines news and views on the most recent scientific publications, as well as broadly accessible and updated review articles on a specific topic, and essays on science and society, history of science, public health, or reactions to published articles. Each year, m/s also publishes one or two thematic issues focused on a research topic of high interest. All review articles and essays are peer-reviewed.
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