Carriba Paulina, Lorenzón Nicola, Dierssen Mara
Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Free Neuropathol. 2023 May 8;4:8. doi: 10.17879/freeneuropathology-2023-4701. eCollection 2023 Jan.
Several advances in the field of neurodevelopmental diseases (NDDs) have been reported by 2022. Of course, NDDs comprise a diverse group of disorders, most of which with different aetiologies. However, owing to the development and consolidation of technological approaches, such as proteomics and RNA-sequencing, and to the improvement of brain organoids along with the introduction of artificial intelligence (AI) for biodata analysis, in 2022 new aetiological mechanisms for some NDDs have been proposed. Here, we present hints of some of these findings. For instance, centrioles regulate neuronal migration and could be behind the aetiology of periventricular heterotopia; also, the accumulation of misfolded proteins could explain the neurological effects in COVID-19 patients; and, autism spectrum disorders (ASD) could be the expression of altered cortical arealization. We also cover other interesting aspects as the description of a new NDD characterized by deregulation of genes involved in stress granule (SG) assemblies, or the description of a newly discovered neural progenitor that explains the different phenotypes of tumours and cortical tubers in tuberous sclerosis complex (TSC) disease; and how it is possible to decipher the aetiology of sudden unexplained death in childhood (SUDC) or improve the diagnosis of cortical malformations using formalin-fixed paraffin-embedded samples.
截至2022年，神经发育疾病（NDDs）领域已有多项进展报道。当然，NDDs包含多种不同疾病，其中大多数病因各异。然而，由于蛋白质组学和RNA测序等技术方法的发展与完善，以及脑类器官的改进，再加上引入人工智能（AI）进行生物数据分析，2022年已提出了一些NDDs的新病因机制。在此，我们介绍其中一些发现的要点。例如，中心粒调节神经元迁移，可能是室管膜下异位病因的背后原因；此外，错误折叠蛋白的积累可以解释COVID-19患者的神经学效应；而且，自闭症谱系障碍（ASD）可能是皮质区域化改变的表现。我们还涵盖了其他有趣的方面，如描述一种以参与应激颗粒（SG）组装的基因失调为特征的新NDD，或描述一种新发现的神经祖细胞，它解释了结节性硬化症（TSC）疾病中肿瘤和皮质结节的不同表型；以及如何利用福尔马林固定石蜡包埋样本解读儿童不明原因猝死（SUDC）的病因或改善皮质畸形的诊断。
