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Published on: April 28, 2016
Long-term plasma levels of leptin and adiponectin in Rett syndrome
P Blardi1, A de Lalla, T D'Ambrogio
1Center of Clinical Pharmacology, University of Siena, Siena, Italy. blardi@unisi.it
Insights
In Rett syndrome, plasma leptin levels rise while adiponectin levels fall over two years. These hormones, linked to weight regulation, may influence Rett syndrome
Area of Science:
- Neuroendocrinology
- Metabolic disorders
- Rare genetic diseases
Background:
- Rett syndrome is a severe neurodevelopmental disorder primarily affecting females.
- Leptin and adiponectin are key hormones regulating body weight and energy metabolism.
- Their role in Rett syndrome pathophysiology is not fully understood.
Purpose of the Study:
- To investigate longitudinal changes in plasma leptin and adiponectin levels in patients with Rett syndrome.
- To compare these levels with healthy controls over a two-year period.
- To explore the relationship between leptin and adiponectin in Rett syndrome.
Main Methods:
- Longitudinal study of 16 female patients with classical Rett syndrome and 16 healthy female controls.
- Plasma samples collected at baseline, 12, and 24 months.
- Quantification of leptin and adiponectin using ELISA.
Main Results:
- Patients showed significantly increased leptin and decreased adiponectin over two years.
- Leptin and adiponectin levels were significantly higher in patients than controls at all time points.
- A significant positive correlation between leptin and adiponectin was observed in patients, but not controls.
Conclusions:
- Altered leptin and adiponectin dynamics in Rett syndrome suggest roles beyond weight regulation.
- These hormones may be involved in the complex clinical manifestations of Rett syndrome.
- Further research is warranted to elucidate the specific mechanisms.
Objective:
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.
Design And Patients:
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.
Measurements:
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.
Results:
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.
Conclusion:
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.
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