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    Fragile X Syndrome (FXS) is the most prevalent monogenic cause of Autism Spectrum Disorders (ASDs). Despite a common genetic etiology, the affected individuals display heterogenous metabolic abnormalities including hypocholesterolemia. Although changes in the metabolism of fatty acids (FAs) have been reported in various neuropsychiatric disorders, it has not been explored in humans with FXS. In this study, we investigated the FA profiles of two different groups: (1) an Argentinian group, including FXS individuals and age- and sex-matched controls, and (2) a French-Canadian group, including FXS individuals and their age- and sex-matched controls. Since phospholipid FAs are an indicator of medium-term diet and endogenous metabolism, we quantified the FA profile in plasma phospholipids using gas</a> chromatography. Our results showed significantly lower levels in various plasma FAs including saturated, monosaturated, ω-6 polyunsaturated, and ω-3 polyunsaturated FAs in FXS individuals compared to the controls. A decrease in the EPA/ALA (eicosapentaenoic acid/alpha linoleic acid) ratio and an increase in the DPA/EPA (docosapentaenoic acid/eicosapentaenoic acid) ratio suggest an alteration associated with desaturase and elongase activity, respectively. We conclude that FXS individuals present an abnormal profile of FAs, specifically FAs belonging to the ω-3 family, that might open new avenues of treatment to improve core symptoms of the disorder.


    Armita Abolghasemi, Maria Paulina Carullo, Ester Cisneros Aguilera, Asma Laroui, Rosalie Plantefeve, Daniela Rojas, Serine Benachenhou, María Victoria Ramírez, Mélodie Proteau-Lemieux, Jean-François Lepage, François Corbin, Mélanie Plourde, Mauricio Farez, Patricia Cogram, Artuela Çaku. Alteration of Fatty Acid Profile in Fragile X Syndrome. International journal of molecular sciences. 2022 Sep 16;23(18)

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    PMID: 36142726

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