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微小 RNA 与唐氏综合征、X 连锁智力障碍及脆性 X 综合征中的智力障碍。

MicroRNAs and intellectual disability (ID) in Down syndrome, X-linked ID, and Fragile X syndrome.

机构信息

NeuroBiology and Genetics Group, Genetic Medicine Research Centre, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia UPM Serdang, Malaysia ; Clinical Genetics Unit, Department of Obstetrics and Gynaecology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia UPM Serdang, Malaysia.

出版信息

Front Cell Neurosci. 2013 Apr 15;7:41. doi: 10.3389/fncel.2013.00041. eCollection 2013.

DOI:10.3389/fncel.2013.00041
PMID:23596395
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3625835/
Abstract

Intellectual disability (ID) is one of the many features manifested in various genetic syndromes leading to deficits in cognitive function among affected individuals. ID is a feature affected by polygenes and multiple environmental factors. It leads to a broad spectrum of affected clinical and behavioral characteristics among patients. Until now, the causative mechanism of ID is unknown and the progression of the condition is poorly understood. Advancement in technology and research had identified various genetic abnormalities and defects as the potential cause of ID. However, the link between these abnormalities with ID is remained inconclusive and the roles of many newly discovered genetic components such as non-coding RNAs have not been thoroughly investigated. In this review, we aim to consolidate and assimilate the latest development and findings on a class of small non-coding RNAs known as microRNAs (miRNAs) involvement in ID development and progression with special focus on Down syndrome (DS) and X-linked ID (XLID) [including Fragile X syndrome (FXS)].

摘要

智力障碍 (ID) 是多种导致受影响个体认知功能缺陷的遗传综合征表现出的众多特征之一。ID 受多基因和多种环境因素的影响。它导致患者表现出广泛的临床和行为特征。到目前为止,ID 的致病机制尚不清楚,病情进展也知之甚少。技术和研究的进步已经确定了各种遗传异常和缺陷是 ID 的潜在原因。然而,这些异常与 ID 之间的联系仍不确定,许多新发现的遗传成分的作用,如非编码 RNA,尚未得到彻底研究。在这篇综述中,我们旨在整合和综合最新的关于一类小非编码 RNA(称为 microRNAs,miRNAs)在 ID 发展和进展中的作用的研究进展和发现,特别关注唐氏综合征 (DS) 和 X 连锁 ID (XLID) [包括脆性 X 综合征 (FXS)]。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4387/3625835/467429a95968/fncel-07-00041-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4387/3625835/0d960877c175/fncel-07-00041-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4387/3625835/6386f092db95/fncel-07-00041-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4387/3625835/467429a95968/fncel-07-00041-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4387/3625835/0d960877c175/fncel-07-00041-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4387/3625835/6386f092db95/fncel-07-00041-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4387/3625835/467429a95968/fncel-07-00041-g0003.jpg

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