Skelton Lab Research
Changes in cellular metabolism have profound effects on brain function. Our lab, led by Matthew R. Skelton, PhD, focuses on the metabolic effects of two disorders: creatine transporter deficiency and bipolar disorder.
Creatine Transporter Deficiency
Discovered at Cincinnati Children’s by Drs. Ton de Grauw and Kim Cecil, creatine transporter deficiency (CTD) is caused by the loss of the creatine transporter gene. Patients with CTD develop an autistic-like phenotype with intellectual disability, significant reductions in language development, ADHD and epilepsy. Unlike similar disorders in which creatine synthesis is impaired, creatine supplementation does not improve the quality of life for these patients. The primary goal of our research in CTD is to better understand how the loss of creatine disrupts brain function, leading to the development of therapies for this currently untreatable disorder.
Bipolar disorder (BD) is the sixth leading cause of disability worldwide, affecting approximately 3% of the adult population. Currently, the etiology of BD is unknown. Current treatment protocols include antipsychotics and mood stabilizers, such as lithium. However, these treatments have significant side effects, causing additional health problems as well as reducing compliance. A better understanding of brain function in BD is required in order for more effective treatments to be developed. Recent data indicate that mitochondrial respiration is impaired in patients with BD. Our lab focuses on how these changes in mitochondrial function are related to the BD phenotype.