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Breakthrough Study Reveals Hidden Genetic Cause of Alzheimer’s and Potential Early Treatment Path

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A new discovery is sending ripples through the medical world: scientists have identified a gene called PHGDH not just as a bystander but as a direct cause of Alzheimer’s disease, potentially changing the diagnosis and treatment of this devastating condition. Uncovering a previously unknown function of this gene, researchers have also pinpointed a candidate drug-like compound that may one day prevent or slow the disease in its earliest stages – a major leap forward, especially for aging societies like Thailand.

The scale of Alzheimer’s is sobering. The disease ranks as the most common form of dementia globally, afflicting approximately one in nine people aged 65 and older. In Thailand, where the proportion of elderly citizens is rising rapidly, concerns about ageing-related cognitive decline are a growing public health and social issue (scitechdaily.com). While some rare genetic mutations are known to cause Alzheimer’s, the vast majority of cases arise “spontaneously,” with causes remaining frustratingly elusive. This research shines new light on these cases, offering not only scientific insight but hope for families and healthcare systems struggling with the demands of dementia care.

The breakthrough, published in the prestigious journal Cell on April 23, 2025, comes from a research team at the University of California, San Diego. Using artificial intelligence and cutting-edge laboratory models, the scientists traced Alzheimer’s disease development to high expression of the PHGDH gene—not just as a marker found in blood, but as a driver of disease in the brain (Cell Journal). “Unfortunately, treatment options for Alzheimer’s disease are very limited. And treatment responses are not outstanding at this moment,” said the project’s senior investigator, a professor of bioengineering at the UC San Diego Jacobs School of Engineering, underscoring the urgency of the research.

What makes this discovery pivotal is the methodology. The team moved beyond traditional studies by leveraging artificial intelligence to produce detailed, three-dimensional models of the PHGDH protein. This allowed them to see that PHGDH isn’t just an enzyme participating in the production of serine—an amino acid and neurotransmitter. It also contains a “moonlighting” substructure resembling DNA-binding domains found in transcription factors, proteins that control which genes in a cell are switched on or off. This “hidden” regulatory role, previously undetected, appears to disrupt normal gene activity patterns in brain cells, settings off a cascade that leads to the early stages of Alzheimer’s disease.

The researchers verified their findings in both mouse models and human brain organoids, observing that increased levels of PHGDH led to more advanced disease, while lower levels resulted in reduced progression. What this means is that PHGDH is not simply “guilty by association” but is an active instigator in spontaneous Alzheimer’s—a revelation set to dramatically influence future research and treatment strategies.

But the story doesn’t end with a new culprit. Crucially, the researchers identified a compound, NCT-503, which selectively interferes with PHGDH’s newly discovered regulatory activity, without compromising its critical enzyme function. NCT-503 is especially promising because it can cross the blood-brain barrier and does not interfere with the production of serine, addressing safety concerns. Preclinical tests in mice, treated with NCT-503, showed marked improvement in memory and anxiety—symptoms that devastate Alzheimer’s patients and their families (scitechdaily.com).

Current Alzheimer’s medicines often target amyloid plaques, sticky protein clumps that accumulate as the disease advances, but many such treatments may arrive too late in the disease process to provide significant benefits (NIH Alzheimer’s Information). By contrast, the PHGDH pathway appears “upstream,” and intervening here could prevent or slow plaque formation in the first place—potentially buying crucial time while a patient’s mental faculties remain largely intact.

While the results in animal models and organoids are promising, the study’s authors are forthright about limitations. There are currently no perfect animal models for spontaneous Alzheimer’s, and further development, including trials in humans, is needed before any new treatments would become available. But the discovery of PHGDH’s twin roles—the obvious enzyme and the hidden gene regulator—opens the door to whole new classes of small-molecule drugs that might one day be taken orally, offering a dramatic improvement over current therapies that often depend on infusions and hospital visits.

For Thailand, the implications are profound. With its “super-aged” society status looming, the burden of dementia and memory-related illness is pressing. Thailand’s Ministry of Public Health has forecasted that dementia prevalence is likely to increase sharply over the next decades (Thai Ministry of Public Health). This creates not only a medical crisis but a societal one, as families and the healthcare system strain to care for increasing numbers of dependent elders. Early diagnosis, ideally through blood-based biomarker testing of genes like PHGDH, could allow at-risk individuals to benefit from emerging therapies at a stage where they still work. Furthermore, if orally available medications like those based on NCT-503 become reality, they could be widely and economically distributed—even to those living far from major hospitals.

Memory loss and dementia are sensitive topics in Thai culture. They raise significant challenges for personal dignity and family harmony, echoing Buddhist teachings about the impermanence of body and mind. Yet as medical science advances, the prospect of maintaining cognitive health longer into old age offers hope for ageing Thais to remain active participants within their families and communities. This is especially pertinent for rural elders, often respected as knowledge-keepers but also among the most vulnerable to isolation when dementia strikes.

Looking forward, this research suggests a future in which the early stages of Alzheimer’s might be detected and treated more effectively, enabling sufferers to retain their independence and dignity. If future clinical trials confirm the safety and efficacy of PHGDH-targeted drugs in humans, countries like Thailand should prepare healthcare systems—from rural district hospitals to Bangkok’s leading academic centers—to deploy new diagnostic tools and treatments. Policymakers, medical professionals, and educators will need to work together to promote awareness of memory health, encourage regular screening among the elderly, and support families in navigating care.

For Thai readers and families concerned about memory loss, the best action is to stay informed about emerging advances in Alzheimer’s research, seek regular medical advice for elderly relatives, and remain alert for new diagnostic tests or therapies that may become available as these discoveries move from the laboratory to the clinic. Continued support for local dementia research and public health initiatives, as well as compassionate understanding within families, will be just as important as any new drug.

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Medical Disclaimer: This article is for informational purposes only and should not be considered medical advice. Always consult with qualified healthcare professionals before making decisions about your health.