In world-first research published in August this year in Nature Structural & Molecular Biology, Associate Professor Marnie Blewitt explains how SMCHD1 is regulating gene expression. SMCHD1 plays a key role in silencing the MAGEL2 cluster of genes which are involved in PWS.
What’s really exciting about understanding how SMCHD1 operates is how this information can be used to boost efforts to develop drugs for diseases like PWS. When we understand the basic science behind a system then we can target it in a precise and controlled fashion.
Pilot experiments last year identified three non-toxic compounds which interact with SMCHD1 and inhibit its action in biochemical assays. This year PWRFA have funded Marnie to generate mouse brain cells so that she can find out if these compounds can activate Magel2. Marnie and her colleagues at the WEHI will bring together the data from these experiments with their new knowledge about how SMCHD1 is regulating gene expression to craft and refine potential treatment options for PWS.
You can read more about the recent SMCHD1 research here:
https://www.wehi.edu.au/news/policing-protein-restrains-genes-enable-healthy-development