Altered transcription in dup15q syndrome; and extra
Connecting threads: Transcriptional changes seen in cortical organoids derived from people with dup15q syndrome are consistent with those detected in postmortem brain samples, according to a new study. Affected processes included increased glycolysis, disrupted marker expression and aberrant morphology. Previous work by this research group found parallels between dup15q syndrome and idiopathic autism. The investigators theorize that the observed metabolic dysregulation “may lead to altered neuron projection, synaptic dysfunction, and neuron hyperexcitability in dup15q syndrome.” Nature Communications
