leptin and Rett-Syndrome

Topics: Animals; Autistic Disorder; Diet, Ketogenic; Disease Models, Animal; Epilepsy; Humans; Leptin; Receptors, Leptin; Rett Syndrome

Rett syndrome is a progressive neurological disorder affecting almost exclusively females after age 6 months and characterised by acquired microcephaly, psychomotor retardation, growth failure, purposeless hand movements, autistic-like behaviour and wide-based and stiff legged gait. Leptin and adiponectin, peptides secreted by adipose tissue, are involved in the regulation of body weight and energy expenditure.. We investigated in patients with Rett syndrome the variations of plasma leptin and adiponectin and their relation over a 2-year period. Sixteen female patients, mean age at the basal time 9.4 +/- 4.3 years, with classical Rett syndrome were enrolled. Controls were 16 healthy female subjects, mean age at the basal time 9.9 +/- 3.4 years.. Blood samples were withdrawn in the morning at the baseline, 12 months after and 24 months after; plasma leptin and adiponectin concentrations were detected by ELISA.. In patients, leptin concentrations significantly increased, while adiponectin concentrations significantly decreased. Both leptin and adiponectin values were significantly higher than those found in controls at each time. Leptin significantly correlated with adiponectin in patients, while there was not a significant correlation in controls.. Since all patients were not obese, we might hypothesize that in Rett syndrome leptin and adiponectin might participate to clinical manifestations other than weight balance.

Topics: Adiponectin; Adiposity; Adolescent; Case-Control Studies; Child; Child, Preschool; Female; Humans; Leptin; Longitudinal Studies; Methyl-CpG-Binding Protein 2; Mutation; Rett Syndrome

Rett syndrome (RTT) is a severe developmental-neurological disorder, characterized by profound and progressive loss of intellectual functioning, occurring after a period (of at least 6 months) of normal development with classic stereotype hand movements, gait ataxia, jerky truncal ataxia, deceleration of brain and body organ growth and cardiac dysautonomia. Pathogenesis of sympathetic overactivity in RTT is unknown, but a previous study observed increased plasma leptin levels in Rett girls and it is well known the role of leptin in the regulation of sympathetic nervous system activity. Aim of our study is to evaluate a relationship between plasma leptin levels and sympathetic activity in RTT. Thirty-two female patients (12.1+/-6.3 years), affected by RTT were enrolled in the study. In all the subjects, we analyzed heart rate variability, QT corrected interval and plasma leptin levels. A significant correlation was found between plasma leptin levels and LF/HF (expression of sympatho-vagal balance) (Spearman r=0.44, p=0.001). There is also a significant negative correlation between HF component (expression of vagal activity) and plasma leptin levels (Spearman r=-0.037, p=0.03) and a positive correlation between LF component and plasma leptin levels (Spearman r=0.047, p=0.01). These results show that in RTT higher plasma leptin levels appear to be associated with sympathetic overactivity, suggesting a role for leptin in cardiac dysautonomia.

Topics: Adolescent; Adult; Arrhythmias, Cardiac; Autonomic Nervous System Diseases; Child; Child, Preschool; Female; Heart Rate; Humans; Leptin; Rett Syndrome; Vagus Nerve

To describe in patients with Rett syndrome (classic and preserved-speech variant) plasma leptin levels and their relationship to BMI (body mass index) and age.. Female patients (n = 48; age range 3-20 years) affected by classic Rett syndrome were enrolled into the study. Eleven female patients, age range 3 to 20 years, with preserved-speech variant Rett syndrome were included in the study. Controls were 24 healthy female subjects, age range 3 to 20 years. Blood samples (3 mL) were withdrawn from an antecubital vein in the morning; plasma leptin concentrations were detected by enzyme-linked immunosorbent assay method.. Patients with classic Rett syndrome and preserved-speech variant had leptin values significantly higher than controls. Leptin concentrations did not significantly differ between patients with classic Rett and preserved-speech variant. Leptin values positively correlated with age and BMI.. Because in all patients the increased leptin concentrations were not associated to obesity, we hypothesize that in patients with Rett syndrome leptin might participate to clinical manifestations other than weight balance.

Topics: Adolescent; Adult; Age Factors; Biomarkers; Body Mass Index; Child; Child, Preschool; Enzyme-Linked Immunosorbent Assay; Female; Humans; Italy; Leptin; Prevalence; Rett Syndrome; Risk Factors

Topics: Anticonvulsants; Biomarkers; Growth Disorders; Humans; Leptin; Rett Syndrome; Valproic Acid