We are excited to have received a Development Award grant from the international Barth Syndrome Foundation, enabling us to continue and develop our work studying the molecular mechanisms of this inherited lipid metabolism disease. This is in a sense a follow-up to our recent collaborative publication on this topic. In our paper in Nature Metabolism we used magic-angle-spinning NMR spectroscopy to probe a protein-lipid complex implicated in Barth Syndrome. The NMR analysis showed it to be highly dynamic, with enhanced mobility triggered by the lyso-cardiolipin lipids that are increased in BTHS. Moreover, we showed that it was feasible to probe small molecule interactions with this pathogenic protein-lipid complex, paving the way for further studies.
Some more information on the Foundation’s website. Or see our recent paper for some more background on the science behind the research. Related, earlier, research is also discussed on this page of our website.