New molecular insight into Rett syndrome could aid quest for treatment

New molecular insight into Rett syndrome could aid quest for treatment

 

Thursday, 6 April, 2017

Dr Matthew Lyst, Prof Adrian Bird and colleagues (School of Biological Sciences) have published a study that examines the structure and interactions of proteins whose genes are mutated in Rett Syndrome, a disease that results in intellectual disability in girls. They found that the amino acids mutated in Rett syndrome are the ones that intimately contact transducin-beta like subunits (TBL). This suggests that TBL-MeCP2 interaction is essential for brain, since mutations in this complex results in intellectual disability.