Alteration of Fatty Acid Profile in Fragile X Syndrome.
Fragile X
fatty acids
lipids
neurodevelopmental disorder
phospholipids
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
16 Sep 2022
16 Sep 2022
Historique:
received:
09
07
2022
revised:
28
08
2022
accepted:
12
09
2022
entrez:
23
9
2022
pubmed:
24
9
2022
medline:
28
9
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36142726
pii: ijms231810815
doi: 10.3390/ijms231810815
pmc: PMC9502195
pii:
doi:
Substances chimiques
Fatty Acids
0
Fatty Acids, Omega-3
0
Phospholipids
0
Linoleic Acid
9KJL21T0QJ
Eicosapentaenoic Acid
AAN7QOV9EA
Fatty Acid Desaturases
EC 1.14.19.-
Fatty Acid Elongases
EC 2.3.1.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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