Hoda Safari Yadz and Tim Garrett, from the Garrett lab in Florida, join us for a presentation and discussion of their work on the metabolomic and lipidomic characterization of an X-chromosome deletion disorder in neural progenitor cells, hosted by the JMSACL podcast group.
X linked disorders are considerably rare and research analysing human samples is under-represented. Research undertaken in this study used neural progenitor cells from an afflicted patient to begin exploring this rare disorder. While most experimental work focuses on the neurodevelopmental impacts of X-chromosome associated diseases, this work demonstrates that they should also be considered metabolic disorders owing to their perturbations on metabolite and lipid biochemistry. This work aims to use mass spectrometry to improve our understanding of these conditions and guide novel interventions by characterizing disease associated metabolic alterations.