Contact: Eileen Teves, 210-450-7239, tevese@uthscsa.edu
Content provided by Claire Kowalick
SAN ANTONIO, Feb. 6, 2025 – A groundbreaking study from researchers at The University of Texas Health Science Center at San Antonio (UT Health San Antonio) has uncovered a genetic factor that may contribute to the risk of late-onset Alzheimer’s disease, a neurodegenerative condition that currently affects approximately 7 million Americans, a number expected to nearly double by 2050 according to the Alzheimer’s Association. While there is no cure, early detection and treatment can significantly preserve brain function and slow disease progression.
Published in Springer Nature’s Molecular Neurodegeneration, a study led by Liang Ma, PhD, assistant professor with the Glenn Biggs Institute for Alzheimer’s and Neurodegenerative Diseases and Joe R. and Teresa Lozano Long School of Medicine Department of Pharmacology at UT Health San Antonio, discovered a specific protein-coding transcript that may contribute to Alzheimer’s disease across all genetic types of apolipoprotein E (APOE), a well-known gene tied to Alzheimer’s risk with variants including ε2, ε3, and ε4. While having one or two APOE ε4 allele increases the likelihood of developing Alzheimer’s, not everyone with this allele will develop the disease, suggesting other genetic factors are at play.
Ma and his research team studied brain samples from more than 1,000 individuals of European and African ancestry, focusing on three regions of the brain, specifically the prefrontal cortex, an area critical for memory and decision-making. The goal was to identify risk factors specific to certain groups or factors that may be universally applied.
“Fortunately, the data shows that the risk factor, gene expression changes and polymorphisms are consistent between European and African ancestries. This suggests these are common risk factors across both populations. That’s good news, because if we develop a drug, we can potentially use it to treat both populations,” Ma said.
Understanding how these genetic factors influence disease progression could lead to new treatments targeting the disease’s underlying mechanisms, improving prevention and management strategies for Alzheimer’s.
“This discovery not only enhances our comprehension of [APOE] function in the brain but also paves the way for novel research avenues into the underlying mechanisms of Alzheimer’s disease,” said Agustin Ruiz, MD, PhD, co-investigator and professor at the Biggs Institute. “Deciphering the physiological role of this transcript and its potential contribution to disease progression is a current challenge that holds promise for the development of innovative therapeutic strategies.”
The study was supported by the New Investigator Award from the Alzheimer’s Association and the National Alzheimer’s Coordinating Center. The grant offers a promising path toward earlier detection and more effective treatment strategies. By identifying new biomarkers and genetic targets, researchers are one step closer to addressing the underlying causes of Alzheimer’s disease and improving outcomes for patients worldwide.
Out of 154 proposals from 34 centers, Ma was chosen to receive the award.
“I’m so fortunate to be one of only 13 researchers awarded this prestigious funding. This will allow me to move my Alzheimer’s research forward significantly. There are many Alzheimer’s centers, and I’m hopeful we can collaborate to pool our data and samples,” said Ma. “By combining our resources, we can create a large, comprehensive dataset to uncover the best paths for advancing this critical work. With the right data and funding, we can make real progress in understanding and treating this devastating disease.”
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The Glenn Biggs Institute for Alzheimer’s and Neurodegenerative Diseases is dedicated to providing comprehensive dementia care while advancing treatment through clinical trials and research. The Biggs Institute is a National Institute on Aging (NIA)-designated Alzheimer’s Disease Research Center (ADRC). In addition to patient care and research, the Biggs Institute partners with the School of Nursing at UT Health Science Center San Antonio to offer the Caring for the Caregiver program.