Rudolf Jaenisch of the Whitehead Institute of Biomedical Research in Cambridge, MA reports in the April 6, 2004 online issue of the Proceedings of the National Academy of Sciences that introduction of the MeCP2 protein into post-mitotic nerve cells of MeCP2 mutant mice rescues the symptoms of Rett Syndrome. This raises the possibility that neurons are functionally normal in a newborn child and that neural dysfunction manifests itself only later due to prolonged MeCP2 deficiency. If correct, therapeutic strategies aimed at preventing the onset of Rett symptoms could be initiated at birth. This project was funded by the Rett Syndrome Research Foundation (RSRF) and the National Institutes of Health (NIH).
Rett Syndrome (RTT) is a severe neurological disorder diagnosed almost exclusively in girls. Children with RTT appear to develop normally until 6 to 18 months of age, when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems. RTT leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living. There is no cure.
In late 1999 it was discovered that mutations in the gene MECP2 were the leading cause of Rett Syndrome. The gene product, MeCP2, is a protein believed to play a vital role in the regulation of gene expression. It is expressed in all organs and found in especially high levels in the brain. The timing of MeCP2 activation coincides with the maturation of the central nervous system and recent reports suggest that MeCP2 may be involved in the formation of contacts between nerve cells and may function in activity-dependent gene expression (i.e. learning). Multiple labs have shown that selective mutation of MeCP2 in nerve cells after birth leads to Rett-like symptoms in mice, suggesting that MeCP2 plays an important role in mature nerve cells.
Dr. Jaenisch devised an expePage: 1 2 Related biology news :1
Contact: Monica Coenraads
Rett Syndrome Research Foundation
. Effects Of Age Of Introduction Of Complementary Foods On Iron Status OfBreast-Fed Infants In Honduras2
. Optimizing proteins death domain halts leukemia in laboratory study3
. Findings suggest need for new view of p53 cancer proteins interaction with DNA4
. A proteins role in progressive renal disease5
. Rb proteins role in retina development is key to understanding devastating eye cancer6
. Researchers view proteins structural changes in real time7
. Misfolding the key to proteins ability to kill brain cells8
. Researchers solve killer proteins crime9
. Biologists discover proteins impace on plant-water balance10
. Penn researchers proteins link to leukemia11
. New study may explain how fats damage neurons in Alzheimers patients