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Alteration of Fatty Acid Profile in Fragile X Syndrome

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dc.contributor.author Abolghasemi, Armita
dc.contributor.author Carullo, María Paulina
dc.contributor.author Cisneros Aguilera, Ester
dc.contributor.author Laroui, Asma
dc.contributor.author Plantefeve, Rosalie
dc.contributor.author Rojas, Daniela
dc.contributor.author Benachenhou, Serine
dc.contributor.author Ramírez, María Victoria
dc.contributor.author Proteau-Lemieux, Mélodie
dc.contributor.author Lepage, Jean-François
dc.contributor.author Corbin, François
dc.contributor.author Plourde, Mélanie
dc.contributor.author Farez, Mauricio Franco
dc.contributor.author Cogram, Patricia
dc.contributor.author Çaku, Artuela
dc.date.accessioned 2023-12-18T13:31:31Z
dc.date.available 2023-12-18T13:31:31Z
dc.date.issued 2022-09-16
dc.identifier.citation Abolghasemi A, Carullo MP, Aguilera EC, Laroui A, Plantefeve R, Rojas D, Benachenhou S, Ramírez MV, Proteau-Lemieux M, Lepage JF, Corbin F, Plourde M, Farez M, Cogram P, Çaku A. Alteration of Fatty Acid Profile in Fragile X Syndrome. Int J Mol Sci. 2022 Sep 16;23(18):10815. doi: 10.3390/ijms231810815. es_ES
dc.identifier.uri https://doi.org/10.3390/ijms231810815
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/914
dc.description.abstract 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, 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. es_ES
dc.language.iso eng es_ES
dc.publisher MDPI es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.subject Autismo es_ES
dc.subject Trastorno Autístico es_ES
dc.subject Lípidos es_ES
dc.subject Lipids es_ES
dc.subject Fatty Acids es_ES
dc.subject Ácidos Grasos es_ES
dc.title Alteration of Fatty Acid Profile in Fragile X Syndrome es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:eu-repo/semantics/publishedVersion
dc.description.fil Fil: Farez, Mauricio Franco. Fleni. Departamento de Neurología; Argentina.
dc.description.fil Fil: Carullo, María Paulina. Fleni. Departamento de Neurología; Argentina.
dc.description.fil Fil: Abolghasemi, Armita. Université de Sherbrooke; Canadá.
dc.description.fil Fil: Cisneros Aguilera, Ester. Université de Sherbrooke; Canadá.
dc.description.fil Fil: Laroui, Asma. Université de Sherbrooke; Canadá.
dc.description.fil Fil: Plantefeve, Rosalie. Université de Sherbrooke; Canadá.
dc.description.fil Fil: Rojas, Daniela. Université de Sherbrooke; Canadá.
dc.description.fil Fil: Benachenhou, Serine. Université de Sherbrooke; Canadá.
dc.description.fil Fil: Ramírez, María Victoria. Fleni. Departamento de Neurología; Argentina.
dc.description.fil Fil: Proteau-Lemieux, Mélodie. Université de Sherbrooke; Canadá.
dc.description.fil Fil: Lepage, Jean-François. Université de Sherbrooke; Canadá.
dc.description.fil Fil: Corbin, François. Université de Sherbrooke; Canadá.
dc.description.fil Fil: Plourde, Mélanie. Université de Sherbrooke; Canadá.
dc.description.fil Fil: Cogram, Patricia. Fraunhofer Chile Research Foundation; Chile.
dc.description.fil Fil: Çaku, Artuela. Université de Sherbrooke; Canadá.
dc.relation.ispartofVOLUME 23
dc.relation.ispartofNUMBER 18
dc.relation.ispartofPAGINATION 10815.
dc.relation.ispartofCOUNTRY Suiza
dc.relation.ispartofCITY Basilea
dc.relation.ispartofTITLE International journal of molecular sciences
dc.relation.ispartofISSN 1422-0067
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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