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Smith-Lemli-Opitz Syndrome

Potential link found between ASD and disturbances in cholesterol metabolism

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There may be a link between autism spectrum disorder (ASD) and disturbances in cholesterol metabolism, according to a study, which sheds new light on the disorder’s underlying mechanisms.

A review of numerous clinical and experimental studies noted that many patients with ASD exhibit an imbalance in cholesterol levels, specifically hypocholesterolemia. This phenomenon appears to be shared not only in ASD but also in related genetic syndromes such as fragile X syndrome (FXS), Rett syndrome (RS), and Smith-Lemli-Opitz (SLO).

Furthermore, alterations in cholesterol levels have been linked to various detrimental effects in the brain, including neuroinflammation, oxidative stress, impaired myelination, and synaptogenesis. Considering that SLO, FXS, and RS patients often display early behavioral markers of ASD followed by cholesterol disturbances, this review suggests that cholesterol metabolic pathways could play a crucial role in the development and progression of ASD.

Reference
Lin J, de Rezende VL, de Aguiar da Costa M, et al. Cholesterol metabolism pathway in autism spectrum disorder: From animal models to clinical observations. Pharmacol Biochem Behav. 2023;223:173522. doi: 10.1016/j.pbb.2023.173522. Epub 2023 Jan 28. PMID: 36717034.

 

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