A groundbreaking AI-assisted study has identified the PHGDH gene as not just a biomarker but an actual cause of Alzheimer’s disease due to its previously unknown secondary function. This discovery by University of California San Diego researchers represents a potential breakthrough in understanding spontaneous Alzheimer’s cases—which affect most patients—and offers a promising pathway for developing targeted treatments for a disease that impacts one in nine people over 65.
The big picture: Researchers utilized artificial intelligence to discover that the PHGDH gene plays a direct causal role in Alzheimer’s disease progression, moving beyond its previous status as merely a disease biomarker.
- The findings, published in the journal Cell on April 23, could fundamentally change how scientists understand and treat Alzheimer’s disease.
- The research team also identified a potential treatment compound that blocks the gene’s harmful secondary function.
Why this matters: Current Alzheimer’s treatments are severely limited in both options and effectiveness, making new causal discoveries particularly valuable.
- Understanding the causes of spontaneous Alzheimer’s—which accounts for the vast majority of cases—has been an elusive goal in neuroscience research.
- Study senior author Sheng Zhong noted that “treatment options for Alzheimer’s disease are very limited. And treatment responses are not outstanding at this moment.”
Key details: The research uncovered that the PHGDH gene has a previously unknown secondary function that contributes directly to Alzheimer’s pathology.
- While certain genetic mutations can cause Alzheimer’s, these account for only a small percentage of all cases, making the discovery of alternative causes crucial.
- The team’s AI-assisted approach helped unravel this complex relationship between the gene and disease progression.
Looking ahead: The identification of a compound that can obstruct the gene’s harmful secondary function presents a new potential treatment pathway for a disease that currently has few effective interventions.
- The research represents a significant step toward developing more targeted and effective treatments for Alzheimer’s disease.
- Further research will likely focus on translating these findings into clinical applications.
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