唐氏综合征与微小RNA
Down syndrome and microRNAs.
作者信息
Brás Aldina, Rodrigues António S, Gomes Bruno, Rueff José
机构信息
Centre for Toxicogenomics and Human Health (ToxOmics), Genetics, Oncology and Human Toxicology, NOVA Medical School, Faculty of Medical Sciences, NOVA University of Lisbon, 1169-056 Lisbon, Portugal.
出版信息
Biomed Rep. 2018 Jan;8(1):11-16. doi: 10.3892/br.2017.1019. Epub 2017 Nov 17.
In recent years numerous studies have indicated the importance of microRNAs (miRNA/miRs) in human pathology. Down syndrome (DS) is the most prevalent survivable chromosomal disorder and is attributed to trisomy 21 and the subsequent alteration of the dosage of genes located on this chromosome. A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR- 125b-2, let-7c and miR-99a. This overexpression may contribute to the neuropathology, congenital heart defects, leukemia and low rate of solid tumor development observed in patients with DS. MiRNAs located on other chromosomes and with associated target genes on or off chromosome 21 may also be involved in the DS phenotype. In the present review, an overview of miRNAs and the haploinsufficiency and protein translation of specific miRNA targets in DS are discussed. This aimed to aid understanding of the pathogenesis of DS, and may contribute to the development of novel strategies for the prevention and treatment of the pathologies of DS.
近年来，大量研究表明微小RNA（miRNA/miRs）在人类病理学中具有重要意义。唐氏综合征（DS）是最常见的可存活染色体疾病，归因于21号染色体三体以及该染色体上基因剂量的后续改变。许多微小RNA在唐氏综合征中过表达，包括miR-155、miR-802、miR-125b-2、let-7c和miR-99a。这种过表达可能导致唐氏综合征患者出现神经病理学、先天性心脏缺陷、白血病以及实体瘤低发率。位于其他染色体上且靶基因位于21号染色体上或不在21号染色体上的微小RNA也可能参与唐氏综合征的表型。在本综述中，讨论了微小RNA以及唐氏综合征中特定微小RNA靶标的单倍剂量不足和蛋白质翻译情况。这旨在帮助理解唐氏综合征的发病机制，并可能有助于开发预防和治疗唐氏综合征相关病症的新策略。
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