Alteration of Fatty Acid Profile in Fragile X Syndrome
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 bee...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-09-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/18/10815 |
| _version_ | 1797487095674044416 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Armita Abolghasemi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T23:43:10Z |
| format | Article |
| id | doaj.art-bbb934987c244f5abce6f71deafb8cff |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T23:43:10Z |
| publishDate | 2022-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-bbb934987c244f5abce6f71deafb8cff2023-11-23T16:48:30ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-09-0123181081510.3390/ijms231810815Alteration of Fatty Acid Profile in Fragile X SyndromeArmita Abolghasemi0Maria Paulina Carullo1Ester Cisneros Aguilera2Asma Laroui3Rosalie Plantefeve4Daniela Rojas5Serine Benachenhou6María Victoria Ramírez7Mélodie Proteau-Lemieux8Jean-François Lepage9François Corbin10Mélanie Plourde11Mauricio Farez12Patricia Cogram13Artuela Çaku14Centre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, CanadaDepartment of Child Neurology, Raúl Carrea Institute for Neurological Research (FLENI), Buenos Aires C1428AQK, ArgentinaCentre de Recherche sur le Vieillissement, Departments of Medicine, University of Sherbrooke, Sherbrooke, QC J1H 4C4, CanadaCentre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, CanadaCentre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, CanadaCentre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, CanadaCentre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, CanadaDepartment of Child Neurology, Raúl Carrea Institute for Neurological Research (FLENI), Buenos Aires C1428AQK, ArgentinaDepartment of Pediatrics and Centre de Recherche du CHUS, University of Sherbrooke, Sherbrooke, QC J1H 5N4, CanadaDepartment of Pediatrics and Centre de Recherche du CHUS, University of Sherbrooke, Sherbrooke, QC J1H 5N4, CanadaCentre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, CanadaCentre de Recherche sur le Vieillissement, Departments of Medicine, University of Sherbrooke, Sherbrooke, QC J1H 4C4, CanadaDepartment of Child Neurology, Raúl Carrea Institute for Neurological Research (FLENI), Buenos Aires C1428AQK, ArgentinaBiomedicine Division, Centre for Systems Biotechnology, Fraunhofer Chile Research Foundation, Santiago 7500588, ChileCentre de Recherche du CHUS, Department of Biochemistry, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, CanadaFragile 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.https://www.mdpi.com/1422-0067/23/18/10815fatty acidsFragile Xphospholipidslipidsneurodevelopmental disorder |
| spellingShingle | 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 fatty acids Fragile X phospholipids lipids neurodevelopmental disorder |
| title | Alteration of Fatty Acid Profile in Fragile X Syndrome |
| title_full | Alteration of Fatty Acid Profile in Fragile X Syndrome |
| title_fullStr | Alteration of Fatty Acid Profile in Fragile X Syndrome |
| title_full_unstemmed | Alteration of Fatty Acid Profile in Fragile X Syndrome |
| title_short | Alteration of Fatty Acid Profile in Fragile X Syndrome |
| title_sort | alteration of fatty acid profile in fragile x syndrome |
| topic | fatty acids Fragile X phospholipids lipids neurodevelopmental disorder |
| url | https://www.mdpi.com/1422-0067/23/18/10815 |
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