Research from the University of Rochester has unveiled significant findings regarding the progression of Batten disease, particularly how sex and age influence its development. The study, published in the Journal of Neurodevelopmental Disorders, indicates that male and female brains exhibit distinct responses as the disease advances.
Batten disease, specifically the CLN3 type, is a rare genetic disorder that severely impacts brain function and development. Symptoms typically manifest between the ages of four and seven, leading to vision loss, cognitive challenges, movement issues, seizures, and speech difficulties. Understanding the disease’s progression has proven challenging, as female patients often experience a later onset of symptoms compared to males, but they tend to show a more rapid deterioration.
Key Findings from the Study
Led by Yanya Ding, Ph.D., an alumna of the Neuroscience Graduate program at the University of Rochester, the research employed a noninvasive technique known as electroencephalography (EEG). This method allowed researchers to monitor brain electrical activity in mouse models of CLN3. The study focused on how male and female mice respond to auditory stimuli, revealing that male mice initially exhibited auditory problems that improved with age, while female mice experienced ongoing difficulties.
“This study provides a model that could transform how we explore potential treatments for Batten disease,” Ding explained. The ability to track brain functions effectively in mice opens new avenues for understanding the disease’s progression and assessing therapeutic options.
Implications for Future Treatments
Co-senior author John Foxe, Ph.D., principal investigator of the Fredrick J. and Marion A. Schindler Cognitive Neurophysiology Lab, emphasized the need for a reliable method to monitor brain function over time. “These findings support the use of EEG as a valuable tool for monitoring disease progression and testing new treatments,” he stated.
Additionally, Kuan Hong Wang, Ph.D., also a co-senior author, highlighted the importance of tailoring therapies based on sex and age. “By revealing differences in how Batten disease progresses for males and females, this research can inform more personalized therapies and improve intervention timing for better outcomes.”
The University of Rochester is recognized as an Intellectual and Developmental Research Center (IDDRC), focusing on neuromarker discovery in Batten disease. Several gene therapies targeting this condition are currently in advanced stages of development. The translational mouse model demonstrated in this study will aid in testing the effectiveness of these experimental treatments.
Other contributors to the research include co-first author Jingyu Feng, as well as Viollandi Prifti, Grace Rico, Alexander Solorzano, Hayley Chang, and Edward Freedman, Ph.D., all affiliated with the University of Rochester Medical Center.
These significant findings mark an important step in understanding Batten disease, offering hope for improved treatment strategies that consider the unique characteristics of each patient.
