Research finds links between epigenetic regulation and ASD in human patients

Science Daily has reported that regulation of a family of brain proteins called bromodomain and extra-terminal domain that contains transcription regulators (BETs) plays the main role in normal cognition and behavior.

The research was conducted at the Icahn School of Medicine at Mount Sinai. Generally, scientists pay attention to finding individual genes that lead to Autism Spectrum Disorders (ASD), but latest study has discovered relation between epigenetic regulation and ASD in human patients.

The study was published on September 21 and in The Journal of Experimental Medicine on October 19.

The study focused on epigenetics, the research of changes in the human genes actions caused due to molecules, regulating when, where and to what degree human genetic material is activated. It didn’t concentrate on DNA code genetic changes that humans inherit from their parents. Such regulation partially derives from the function of specialized protein complexes that attach to particular DNA sequences, either encouraging or shutting down the expression of a given gene.

They discovered that BETs, a family of epigenetic regulators that gets attach to various genes, contributing to the copying of these genes into messenger RNA, the template the cell use in making proteins, play a main role in the regulation of normal neuronal development and function.

Researchers used a new type of pharmacological compound for conducting the study. The compound does not lead to inactivation of BET proteins but, rather, save them from binding to the genes. They developed a novel, highly specific, brain-permeable inhibitor of BET proteins known as I-BET858. Initially the compound was tested on in vitro cultured mouse neurons.

They found that it had an impact on the functioning of a particular group of genes with known association with neuron development and synaptic functions.