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Bone histomorphometry in three females with Rett syndrome.
1Division of Developmental Pediatrics, Oregon Health Sciences University, P.O. Box 574, Portland, OR 97207, USA. msbudden@pacifier.com
Brain & Development
|December 12, 2001
Summary
Rett syndrome is linked to low bone mass, with reduced bone volume and formation rates observed in affected girls. Genetic factors may influence bone development in this condition.
Area of Science:
- Bone biology
- Genetics
- Pediatric disorders
Background:
- Osteoporosis is common in Rett syndrome, but its cause is unclear.
- The link between low bone mass and the genetic basis of Rett syndrome is not well understood.
Purpose of the Study:
- To investigate bone remodeling in girls with Rett syndrome using quantitative bone histomorphometry.
- To determine if there is a relationship between low bone mass and the genetic disorder.
Main Methods:
- Bone biopsies from the anterior iliac crest were obtained from three girls with Rett syndrome.
- Bone surfaces were double-labeled with tetracycline.
- Quantitative bone histomorphometry was performed on processed bone samples.
Main Results:
- Reduced bone volume was observed in all patients.
- Normal bone formation surface parameters but decreased resorption parameters (osteoclast surface and number) were noted.
- Reduced bone formation rate was seen in two of the three patients.
Conclusions:
- Decreased bone volume in Rett syndrome may be due to a slow rate of bone formation, hindering peak bone mass accumulation.
- This study is the first to document reduced bone volume via quantitative histomorphometry in Rett syndrome patients.
- Genetic factors, specifically MECP2 mutations, likely play a role in both brain development and bone formation in Rett syndrome.