New research on the genetics of Prader-Willi and Angelman syndromes could help in developing personalised therapies for associated mental illness and autism features. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) have few treatments for associated complications including autism spectrum disorder (ASD) and mental health issues such as psychosis.
Murdoch Children’s Research Institute (MCRI) and University of Kansas Medical Center (KU Medical Center) experts have found that changes in expression levels of the UBE3A gene in white blood cells were associated with social and communication difficulties in PWS and impairment of fine motor and language skills in AS. The team now plan to investigate whether these changes are also seen in patients’ supporting brain cells, called glia.