Figure 7.

FMR1-deficiency in Fragile X Syndrome patients reduces glucose and insulin and increases circulating FFA. (A) OPLS-DA of ¹H NMR spectra from sera of FXS patients and sex-, aged-, BMI-matched controls and computation of PLS scores maximizing the segregation of the groups (TPred1 & TYosc1). Sera were collected in the fed state. (B) Permutation testing to assess significance of the O-PLS-DA model presented in (A) (n = 10,000 random iterations, p = 0.026). (C) Pseudo-spectrum representation of OPLS-DA model coefficients to highlight spectral regions responsible for discrimination between FXS and control samples. Positive and negative model coefficients respectively correspond to significantly higher or lower metabolite concentrations in FXS patients as compared to controls. ¹H NMR signals corresponding to glucose, glutamine, alanine and creatine are highlighted. (D) Relative quantification of the ¹H NMR signal corresponding to glucose peak at 5.25 ppm in sera from controls and FXS patients. Data are means ± SEM; n = 28 controls, n = 24 FXS patients; 2-tailed Student's T-test on log-transformed data: *, p < 0.05. (E) Circulating levels of insulin in controls and FXS patients. Data are means ± SEM; n = 29 controls, n = 25 FXS patients; 2-tailed Student's T-test on log-transformed data: *, p < 0.05. (F) Circulating levels of FFA in controls and FXS patients. Data are means ± SEM; n = 28 controls, n = 25 FXS patients; 2-tailed Student's T-test on log-transformed data: *, p < 0.05.