{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T06:51:02Z","timestamp":1762066262251,"version":"build-2065373602"},"reference-count":60,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2022,9,16]],"date-time":"2022-09-16T00:00:00Z","timestamp":1663286400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fraxa research foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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 chromatography. Our results showed significantly lower levels in various plasma FAs including saturated, monosaturated, \u03c9-6 polyunsaturated, and \u03c9-3 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 \u03c9-3 family, that might open new avenues of treatment to improve core symptoms of the disorder.<\/jats:p>","DOI":"10.3390\/ijms231810815","type":"journal-article","created":{"date-parts":[[2022,9,18]],"date-time":"2022-09-18T23:39:22Z","timestamp":1663544362000},"page":"10815","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Alteration of Fatty Acid Profile in Fragile X Syndrome"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0732-2996","authenticated-orcid":false,"given":"Armita","family":"Abolghasemi","sequence":"first","affiliation":[{"name":"Centre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3943-7870","authenticated-orcid":false,"given":"Maria Paulina","family":"Carullo","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Ra\u00fal Carrea Institute for Neurological Research (FLENI), Buenos Aires C1428AQK, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7583-6337","authenticated-orcid":false,"given":"Ester Cisneros","family":"Aguilera","sequence":"additional","affiliation":[{"name":"Centre de Recherche sur le Vieillissement, Departments of Medicine, University of Sherbrooke, Sherbrooke, QC J1H 4C4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asma","family":"Laroui","sequence":"additional","affiliation":[{"name":"Centre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalie","family":"Plantefeve","sequence":"additional","affiliation":[{"name":"Centre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Rojas","sequence":"additional","affiliation":[{"name":"Centre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serine","family":"Benachenhou","sequence":"additional","affiliation":[{"name":"Centre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Victoria","family":"Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Ra\u00fal Carrea Institute for Neurological Research (FLENI), Buenos Aires C1428AQK, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5874-9159","authenticated-orcid":false,"given":"M\u00e9lodie","family":"Proteau-Lemieux","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Centre de Recherche du CHUS, University of Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Fran\u00e7ois","family":"Lepage","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Centre de Recherche du CHUS, University of Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7ois","family":"Corbin","sequence":"additional","affiliation":[{"name":"Centre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e9lanie","family":"Plourde","sequence":"additional","affiliation":[{"name":"Centre de Recherche sur le Vieillissement, Departments of Medicine, University of Sherbrooke, Sherbrooke, QC J1H 4C4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauricio","family":"Farez","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Ra\u00fal Carrea Institute for Neurological Research (FLENI), Buenos Aires C1428AQK, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Cogram","sequence":"additional","affiliation":[{"name":"Biomedicine Division, Centre for Systems Biotechnology, Fraunhofer Chile Research Foundation, Santiago 7500588, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Artuela","family":"\u00c7aku","sequence":"additional","affiliation":[{"name":"Centre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1002\/ajmg.a.32848","article-title":"Autism Spectrum Disorder in Fragile X Syndrome: A Longitudinal Evaluation","volume":"149A","author":"Hernandez","year":"2009","journal-title":"Am. 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