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Researchers find possible neuromarker for ‘juvenile-onset’ Batten disease

Monday, January 8, 2024

Early symptoms can be subtle. A child’s personality and behavior may change, and clumsiness or stumbling develops between the ages of five and ten. Over time, cognitive impairment sets in, seizures emerge or worsen, vision loss begins, and motor skills decline. This is the course of Batten disease, a progressive inherited disorder of the nervous system that results from mutations to the CLN3 gene.

“It is a devastating neurodegenerative disorder of childhood,” said John Foxe, PhD, director of the Del Monte Institute for Neuroscience and co-director of the University of Rochester Intellectual and Developmental Disabilities Research Center (UR-IDDRC), “and while it is very rare, it is important to study and understand because it could inform what we know and how we treat it and other related rare diseases.”

In a new study, out today in the Journal of Neurodevelopmental Disorders, Foxe and a team of researchers from the University of Rochester Medical Center may be closer to that goal of understanding. The paper describes how they measured changes in brain function of participants with CLN3 disease, also known as 'juvenile-onset' Batten disease. Researchers found that the functioning of the auditory sensory memory system—the brain system required for short-term memory recall—appears to decrease as the disease progresses. They revealed this by utilizing electroencephalographic recordings (EEG) to measure the brain activity of participants with and without Batten disease as they passively listened to simple auditory beeps. The participants simultaneously watched a video of their favorite movie while the brain responses to these beeps were being measured. In the participants with Batten disease, the EEG revealed a decline in the response from the auditory sensory memory system as the disease progressed. There were no significant changes among the other participants. This finding suggests that this easy-to-measure brain process may be a target or biomarker in measuring treatment outcomes in clinical trials.

“We needed to find a task that did not require explicit engagement or attention, and this is one of those kinds of tasks,” Foxe said. “The brain produces the signal that we're looking at, regardless of whether the participant is paying attention to the beeps or not. It is an objective method that provides new insight into the brain function of a population with varying communication abilities.”

Read More: Researchers find possible neuromarker for ‘juvenile-onset’ Batten disease

Researchers identify path to prevent cognitive decline after radiation

Wednesday, January 3, 2024

Researchers at the Del Monte Institute for Neuroscience at the University of Rochester find that microglia—the brain’s immune cells—can trigger cognitive deficits after radiation exposure and may be a key target for preventing these symptoms. These findings, out today in the International Journal of Radiation Oncology Biology Biophysics, build on previous research showing that after radiation exposure microglia damage synapses, the connections between neurons that are important to cognitive behavior and memory.

“Cognitive deficits after radiation treatment are a major problem for cancer survivors," M. Kerry O’Banion, MD, PhD, professor of Neuroscience, member of the Wilmot Cancer Institute, and senior author of the study said. “This research gives us a possible target to develop therapies to prevent or mitigate against such deficits in people who need brain radiotherapy.”

Using several behavioral tests, researchers investigated the cognitive function of mice before and after radiation exposure. Female mice performed the same throughout, indicating a resistance to radiation injury. However, researchers found male mice could not remember or perform certain tasks after radiation exposure. This cognitive decline correlates with the loss of synapses and evidence of potentially damaging microglial over-reactivity following the treatment.

Researchers then targeted the pathway in microglia important to synapse removal. Mice with these mutant microglia had no cognitive decline following radiation. And others that were given the drug, Leukadherin-1, which is known to block this same pathway, during radiation treatment, also had no cognitive decline.

“This could be the first step in substantially improving a patient's quality of life and need for greater care,” said O’Banion. “Moving forward, we are particularly interested in understanding the signals that target synapses for removal and the fundamental signaling mechanisms that drive microglia to remove these synapses. We believe that both avenues of research offer additional targets for developing therapies to help individuals receiving brain radiotherapy.”

O’Banion believes this work may have broader implications because some of these mechanisms are connected to Alzheimer's and other neurodegenerative diseases.

Additional authors include first author Joshua Hinkle, PhD, postdoctoral fellow at the National Institute on Drug Abuse and former graduate student in the O’Banion-Olschowka LabsJohn Olschowka, PhD, and Jacqueline Williams, PhDof the University of Rochester Medical Center. This research was supported by the National Institutes of Health, and NASA.

Read More: Researchers identify path to prevent cognitive decline after radiation