Mecp 2 - Loss of Function
Rett Syndrome
Genotype
Mecp 2
Mechanism
Loss of Function
Phenotype
Motor coordination, Breathing difficulties, Social isolation, Anxiety,Repetitive behavior
Biomarker
PSD-95, MAP2, GFAP, CAT
Gene Expression Markers
MECP2, BDNF, SYP, DLG4, SOD1
Physiology Changes
Respiration rate, Heart rate
Histology Grading Endpoint
Reduced neuronal size, Cortical layer thinning and Astrocyte activation