Biochemistry and Functional Genomic Department, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.
Biochemistry and Functional Genomic Department, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.
Int Rev Neurobiol. 2023;173:115-139. doi: 10.1016/bs.irn.2023.08.011. Epub 2023 Sep 16.
Neurodevelopmental disorders (NDDs) are a group of etiologically diverse diseases primarily associated with abnormal brain development, impaired cognition, and various behavioral problems. The majority of NDDs present a wide range of clinical phenotypes while sharing distinct cellular and biochemical alterations. Low plasma cholesterol levels have been reported in a subset of NNDs including, autism spectrum disorder (ASD) and fragile X syndrome (FXS). The present review focuses on cholesterol metabolism and discusses the current evidence of lipid disruption in ASD, FXS, and other genetically related NDDs. The characterization of these common deficits might provide valuable insights into their underlying physiopathology and help identify potential therapeutic targets.
神经发育障碍(NDDs)是一组病因多样的疾病,主要与异常脑发育、认知障碍和各种行为问题有关。大多数 NDDs 表现出广泛的临床表型,同时伴有明显的细胞和生化改变。一些 NDD,包括自闭症谱系障碍(ASD)和脆性 X 综合征(FXS),报道存在血浆胆固醇水平降低。本综述重点讨论胆固醇代谢,并讨论脂质紊乱在 ASD、FXS 和其他遗传相关 NDD 中的现有证据。这些共同缺陷的特征可能为其潜在的病理生理学提供有价值的见解,并有助于确定潜在的治疗靶点。