Alteration of Fatty Acid Profile in Fragile X Syndrome
Abstract
:1. Introduction
2. Results
2.1. Study Population Characteristics
2.2. FA Profile
2.2.1. ω-6 FA Profile
2.2.2. ω-3 FA Profile
2.3. Estimation of Metabolical Enzymes Activity
3. Discussion
4. Materials and Methods
4.1. Study Population
4.2. Sample Collection
4.3. FA Extraction and Analysis
4.4. Statistical Analysis
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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FXS | Controls | p-Value | |
---|---|---|---|
All cohorts (N) | 34 | 34 | NA |
Argentinians (N) | 23 | 23 | |
French-Canadians (N) | 11 | 11 | |
Sex N (% males) | 28 (91%) | 28 (91%) | >0.99 1 |
Age (mean ± SD) | 22.8 ± 12.8 | 23.7 ± 13.6 | 0.77 2 |
Children, N (mean yrs ± SD) | 9 (6.3 ± 0.9) | 9 (6.0 ± 1.2) | 0.51 |
Adolescents N (mean yrs ± SD) | 4 (14.8 ± 3.8) | 4 (14.8 ± 3.8) | >0.99 |
Adults, N (mean yrs ± SD) | 21 (31.6 ± 7.6) | 21 (33.1 ± 7.1) | 0.52 |
FXS diagnosis | |||
Full mutation (%) | 88.6 | ||
Mosaic (%) | 11.4 |
Fatty Acids | FXS (n = 34) Median in mg/L [IQ1, IQ3] | Controls (n = 34) Median in mg/L [IQ1, IQ3] | Adjusted p-Value * |
---|---|---|---|
C14:0 | 8.3 [6.8, 9.2] | 9.5 [7.4, 11.0] | 0.0455 |
C16:0 | 490.8 [444.4, 530.5] | 587.5 [534.2, 681.9] | 0.0008 |
C18:0 | 362.7 [307.4, 409.2] | 387.9 [336.4, 460.0] | 0.1174 |
SFA total | 855.1 [737.7, 962.4] | 978.6 [898.4, 1070.0] | 0.0017 |
C16:1 ω-7 | 6.6 [5.6, 8.4] | 10.0 [8.3, 13.4] | 0.0008 |
C18:1 ω-9 | 208.3 [181.9, 242.6] | 242.3 [216.2, 256.0] | 0.0158 |
C18:1 ω-7 | 20.7 [16.7, 26.1] | 26.5 [20.3, 30.5] | 0.0084 |
MUFA total | 236.0 [202.0, 276.7] | 274.4 [254.0, 297.7] | 0.0084 |
C18:2 ω-6 | 372.3 [307.6, 436.7] | 456.5 [389.3, 515.7] | 0.0008 |
C20:3 ω-6 | 55.3 [38.9, 76.7] | 66.5 [55.3, 83.9] | 0.0460 |
C20:4 ω-6 | 184.6 [161.2, 226.7] | 212 [173.6, 283.9] | 0.0489 |
ω-6 total | 621.8 [524.5, 717.0] | 746.5 [655.2, 867.2] | 0.0013 |
C18:3 ω-3 | 2.8 [2.1, 3.8] | 3.4 [2.4, 4.2] | 0.1844 |
C20:5 ω-3 | 6.4 [4.3, 10.2] | 12.4 [6.9, 15.5] | 0.0084 |
C22:5 ω-3 | 15.5 [11.5, 19,5] | 17.1 [15.2, 21,8] | 0.1844 |
C22:6 ω-3 | 43.8 [34.2, 55.1] | 60.0 [38.0, 79.9] | 0.0336 |
ω-3 total | 72.1 [57.0, 85.0] | 93.7 [68.8, 122.5] | 0.0173 |
PUFA total | 684.1 [600.0, 803.3] | 842.4 [734.9, 962.3] | 0.0015 |
ω-3/ω-6 | 0.1 [0.1, 0.1] | 0.1 [0.1, 0.1] | 0.4400 |
C20:5/C18:3(EPA/ALA) | 2.4 [1.6, 3.6] | 3.1 [2.6, 4.1] | 0.0410 |
C22:5/C20:5(DPA/EPA) | 2.5 [1.4, 3.2] | 1.6 [1.2, 2.2] | 0.0455 |
C22:6/C22:5(DHA/DPA) | 2.8 [2.3, 3.3] | 3.5 [2.4, 4.3] | 0.1844 |
C22:6/C20:5(DHA/EPA) | 6.6 [3.9, 10.0] | 5.3 [2.7, 8.0] | 0.2148 |
20:3/18:2 | 0.2 [0.1, 0.2] | 0.2 [0.1, 0.2] | 0.7947 |
20:4/20:3 | 3.7 [2.6, 4.5] | 3.3 [2.7, 3.9] | 0.6797 |
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Abolghasemi, A.; Carullo, M.P.; Aguilera, E.C.; Laroui, A.; Plantefeve, R.; Rojas, D.; Benachenhou, S.; Ramírez, M.V.; Proteau-Lemieux, M.; Lepage, J.-F.; et al. Alteration of Fatty Acid Profile in Fragile X Syndrome. Int. J. Mol. Sci. 2022, 23, 10815. https://doi.org/10.3390/ijms231810815
Abolghasemi A, Carullo MP, Aguilera EC, Laroui A, Plantefeve R, Rojas D, Benachenhou S, Ramírez MV, Proteau-Lemieux M, Lepage J-F, et al. Alteration of Fatty Acid Profile in Fragile X Syndrome. International Journal of Molecular Sciences. 2022; 23(18):10815. https://doi.org/10.3390/ijms231810815
Chicago/Turabian StyleAbolghasemi, Armita, Maria Paulina Carullo, Ester Cisneros Aguilera, Asma Laroui, Rosalie Plantefeve, Daniela Rojas, Serine Benachenhou, María Victoria Ramírez, Mélodie Proteau-Lemieux, Jean-François Lepage, and et al. 2022. "Alteration of Fatty Acid Profile in Fragile X Syndrome" International Journal of Molecular Sciences 23, no. 18: 10815. https://doi.org/10.3390/ijms231810815