As a neuroscientist, I’ve had a long-standing interest in the mechanisms of learning and memory. We know cellular metabolism changes have profound effects on brain function, but we are still learning how it influences behavioral outputs.
When I joined Cincinnati Children’s in 2006 after completing my PhD in molecular and developmental biology, I was excited for the opportunity to help study the metabolic effects of creatine transporter deficiency (CTD) — which was discovered right here at Cincinnati Children’s — and bipolar disorder.
Most people with creatine deficiency, which causes moderate to severe intellectual disability, epilepsy and a lack of language development, have CTD. Although there are no treatments for this devastating disorder, my colleagues and I hope to change that.
Our lab developed a novel, high-fidelity mouse model of CTD that shows severe learning and memory deficits while demonstrating that creatine is necessary for proper brain development. We are using this model to better understand the mechanisms that underlie CTD and to test potential treatments.
One of the most important takeaways from our CTD research is that creatine is more than just a dietary supplement for athletes. It is one of the most abundant molecules in the brain and plays an important role in cellular health.
Our team is also interested in creating mental health disorders models to see if there are metabolic differences that underlie these changes. For example, we’ve achieved a mouse model of increased dopamine activation by slowing the termination of dopamine signals. We are using this model to better understand aspects of human affective disorders and to see how changes in neuronal signaling affect metabolism.
Outside of my research and teaching activities, I’m a member of the Scientific and Medical Advisory Board for the Association of Creatine Deficiencies.
BA: Biology, Bellarmine University, Louisville, KY, 2000.
PhD: Molecular and Developmental Biology, University of Cincinnati, Cincinnati, OH, 2006.
A Gad2 specific Slc6a8 deletion recapitulates the contextual and cued freezing deficits seen in Slc6a8-/y mice. Brain Research. 2024; 1825:148690.
Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency. Frontiers in Molecular Neuroscience. 2023; 16:1118707.
Blueberry Supplementation in Midlife for Dementia Risk Reduction. Nutrients. 2022; 14:1619.
Creatine Transporter, Reduced in Colon Tissues From Patients With Inflammatory Bowel Diseases, Regulates Energy Balance in Intestinal Epithelial Cells, Epithelial Integrity, and Barrier Function. Gastroenterology. 2020; 159:984-998.e1.
Male mice placed on a ketogenic diet from postnatal day (P) 21 through adulthood have reduced growth, are hypoactive, show increased freezing in a conditioned fear paradigm, and have spatial learning deficits. Brain Research. 2020; 1734:146697.
Creatine transporter knockout mice (Slc6a8) show increases in serotonin-related proteins and are resilient to learned helplessness. Behavioural Brain Research. 2020; 377:112254.
Deletion of the Creatine Transporter (Slc6a8) in Dopaminergic Neurons Leads to Hyperactivity in Mice. Journal of Molecular Neuroscience. 2020; 70:102-111.
Deletion of the creatine transporter gene in neonatal, but not adult, mice leads to cognitive deficits. Journal of Inherited Metabolic Disease. 2019; 42:966-974.
Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency. Nanomedicine (London, England). 2019; 14:1579-1593.