Two reports in Nature (Vol. 418, No 6896, 25 July ’02, pp. 417-422; 422-425) describe a full circle of investigation into the molecular biology of muscular dystrophies - genetic diseases that cause progressive muscle weakness.
The reports detail the path from known human disease genes, to recognition of similarities between mouse mutants and human disease, to discovery of common features in the disease processes and identification of a pathway that might be involved. Predicting the outcome of genetic-manipulation experiments in mice, and testing those predictions, completes the circle.
Both papers are by Kevin P. Campbell of the University of Iowa, Iowa City, and colleagues. They show that the defect underlying muscle weakness and brain abnormalities in muscle-eye-brain disease and in Fukuyama congenital muscular dystrophy is probably disrupted glycosylation (the addition of sugar molecules) of a protein called á-dystroglycan.
"Yet to come is the unravelling of dystroglycan's roles in synapse formation in the brain and in the neuromuscular junction, as well as in neuronal migration and synaptic function," says M. Elizabeth Ross of Cornell University, Ithaca, New York, in an accompanying News and Views article.
Kevin P. Campbell
tel +1 319 335 7867
M. Elizabeth Ross
(C) Nature press release.
Message posted by: Trevor M. D'Souza