19.1 neuroimmune, epigenetic, and metabolic interactions during symptom progression in a mouse model of rett syndrome

Mutations in the X-linked gene MECP2 cause Rett syndrome (RTT), a neurodevelopmental disorder in females. Because of the complex MeCP2 mutant/wild-type mosaicism observed in MeCP2 mutant female mice, the majority of RTT preclinical studies are performed only on MeCP2 null male mice lacking MeCP2 in all cells. But RTT patients are heterozygous females that exhibit delayed and progressive symptom onset beginning in late infancy, including neurologic as well as metabolic, immune, respiratory, and gastrointestinal phenotypes.

Source: Journal of the American Academy of Child and Adolescent Psychiatry - October 1, 2020 Category: Psychiatry Authors: Janine M. LaSalle, Dag H. Yasui, Kari E. Neier, Sharifi Osman, Annie Vogel Ciernia, Rebecca Palmer, Tiana E. Grant, Sophia M. Hakam Tags: Symposium 19 Source Type: research