New insights into Rett syndrome
A pair of papers from the lab of Fred Gage has provided new insights into the molecular and cellular processes affected i n Rett syndrome . This syndrome is associated with arrested development and autistic features. It affects mainly girls, who typically show normal development until around age two, followed by a sudden and dramatic deterioration of function, regression of language skills and the emergence of autistic symptoms. It is caused mainly by mutations in the gene encoding MeCP2 , which resides on the X chromosome. Complete removal of the function of this gene is effectively lethal, explaining why Rett syndrome is not observed in boys – males who inherit that mutation are not viable. Females, who have a back-up copy of the X chromosome survive but subsequently show the symptoms of the disease. The function of the MeCP2 protein seems very far removed from the kinds of symptoms observed when it is deleted. The job of MeCP2 is to bind to DNA that carries a specific chemica...