Susan Maloney, PhD

Research Interests

Metabolic Regulation

Category(ies) of Research

Basic

Translational

Descriptor of Research

We are interested in understanding the underlying metabolic etiology of obesity exhibited by patients with polymorphisms associated with neurodevelopmental disorders resulting in autism, ADHD, and intellectual disability. This includes MYT1L Syndrome, resulting from loss-of-function in the MYT1L gene, in which patients exhibit obesity and other endocrine issues. We recently generated a mouse model of MYT1L deletion using a precision medicine approach that genocopies a patient at the Child Psychiatry Clinic at Washington University. Our mice recapitulate obesity and we found expression differences in genes that regulate eating and metabolic processes such as the leptin receptor. We now want to use this model to understand how the MYT1L loss perturbs metabolic processes and results in obesity and feeding behavior issues. This project will serve as an exemplar for future studies of other genes related to neurodevelopmental disorders and associated metabolic dysregulation such as Dnmt3a and Magel2.

PubMed