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Research Pilot Grant Feature: Belinda Pinto, PhD

Published on Wed, 01/22/2025

Belinda Pinto, PhD has dedicated the past nine years to addressing an often-overlooked symptom of myotonic dystrophy type 1(DM1)—excessive daytime sleepiness (hypersomnia). While DM1 is classified as a muscular dystrophy, Dr. Pinto was struck by how profoundly hypersomnia affects the quality of life for patients and their families. Despite its significant impact, very little research had been conducted on this symptom, leaving a critical gap in understanding and treatment development. Dr. Pinto set out to change that.

Sleep timing and structure are controlled by the body’s circadian system, which regulates our sleep-wake cycles over a 24-hour period. Dr. Pinto began her research into DM1 hypersomnia by studying circadian activity rhythms in a fruitfly model of DM1. She discovered that DM1 disrupts locomotor activity rhythms due to alterations in circadian clock proteins. Expanding her research to a DM1 mouse model, the Dmpk knock-in (KI) mice, she confirmed that these mice—known to mimic DM1 CNS pathology—exhibited shorter-than-normal activity rhythms, demonstrating that DM1 disrupts the circadian system.

Dr. Pinto’s current project, “Investigating the Contribution of Circadian Disruption to Hypersomnolence in Myotonic Dystrophy,” builds on this work by further studying the circadian system's disruption in DM1 using the Dmpk KI model. As a Research Assistant Scientist at the University of Florida, Dr. Pinto will use behavioral studies, molecular rhythm analyses in tissue clocks, and transcriptomic data to pinpoint how expanded CTG repeats disturb normal circadian rhythms. These findings will provide critical insights into the biological causes of DM1 hypersomnia and establish a platform for developing new therapeutic approaches.

Currently working in Dr. Eric Wang’s lab at the University of Florida’s Department of Molecular Genetics and Microbiology and the Center for Neurogenetics, Dr. Pinto is committed to advancing our understanding of the molecular mechanisms behind hypersomnia in DM1 and leading efforts to develop future treatments. She earned her Ph.D. from the University of Iowa and completed her postdoctoral training at the prestigious Orr-Weaver lab at the Whitehead Institute in Cambridge, MA.

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