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Abnormalities in urinary pterin levels in Rett syndrome
S Messahel1, A E Pheasant, H Pall
1School of Biosciences, University of Birmingham, Edgbaston, UK.
Summary
Urinary neopterin levels are elevated in young girls with Rett syndrome, suggesting immune activation. Biopterin levels remain low with age, possibly indicating metabolic defects linked to Rett syndrome.
Area of Science:
- Biochemistry
- Neuroscience
- Immunology
Background:
- Pterins, neopterin and biopterin, are naturally occurring compounds in body fluids.
- Elevated neopterin indicates cellular immune system activation.
- Reduced biopterins are crucial for monoamine neurotransmitter synthesis.
Purpose of the Study:
- To measure urinary neopterin and biopterin levels in individuals with Rett syndrome.
- To compare these levels with healthy siblings and controls.
- To investigate potential links between pterin metabolism and Rett syndrome.
Main Methods:
- High-performance liquid chromatography (HPLC) was used for precise measurement.
- Urinary samples were collected from 40 subjects with Rett syndrome, 8 healthy sisters, and 29 female controls.
- The study included a wide age range (2-54 years).
Main Results:
- Urinary neopterin levels were found to be elevated in a subset of young girls with Rett syndrome.
- Elevated neopterin was not observed in older women with Rett syndrome.
- Urinary biopterin levels were similar to controls in young children but remained low with age, unlike increasing control values.
Conclusions:
- Findings suggest potential immune activation during the regression phase of Rett syndrome.
- The persistent low levels of biopterin may indicate an inherited metabolic disorder affecting tetrahydrobiopterin metabolism.
- This metabolic dysfunction could potentially increase the risk of developing Rett syndrome.