The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders

International Journal of Molecular Sciences

Salvatore Oliviero¹  Ivan Molineris¹  Mara Maldotti¹  Alfredo Brusco²  Lisa Pavinato²  Giorgio R. Merlo³  Carla Liaci³  Lucia Prandi³ 

[1] Department of Life Sciences and System Biology, University of Torino, 10124 Torino, Italy;Department of Medical Sciences, University of Torino, 10126 Torino, Italy;Department of Molecular Biotechnology and Health Sciences, University of Torino, 10126 Torino, Italy;

关键词: lncRNAs;    intellectual disability;    neurodevelopmental disorders;    gene networks;    neuronal differentiation;    systems biology;   

DOI  :  10.3390/ijms23116118

来源: DOAJ

【 摘 要 】

In the human brain, long non-coding RNAs (lncRNAs) are widely expressed in an exquisitely temporally and spatially regulated manner, thus suggesting their contribution to normal brain development and their probable involvement in the molecular pathology of neurodevelopmental disorders (NDD). Bypassing the classic protein-centric conception of disease mechanisms, some studies have been conducted to identify and characterize the putative roles of non-coding sequences in the genetic pathogenesis and diagnosis of complex diseases. However, their involvement in NDD, and more specifically in intellectual disability (ID), is still poorly documented and only a few genomic alterations affecting the lncRNAs function and/or expression have been causally linked to the disease endophenotype. Considering that a significant fraction of patients still lacks a genetic or molecular explanation, we expect that a deeper investigation of the non-coding genome will unravel novel pathogenic mechanisms, opening new translational opportunities. Here, we present evidence of the possible involvement of many lncRNAs in the etiology of different forms of ID and NDD, grouping the candidate disease-genes in the most frequently affected cellular processes in which ID-risk genes were previously collected. We also illustrate new approaches for the identification and prioritization of NDD-risk lncRNAs, together with the current strategies to exploit them in diagnosis.

【 授权许可】

Unknown