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Potential cause of unexplained diseases suffered by millions of Americans discovered by scientists... leading the way to cures READ MORE: Female hormone protects cells from age-related deterioration By CASSIDY MORRISON, US SENIOR HEALTH REPORTER Published: 12:01 EST, 4 November 2025 | Updated: 12:03 EST, 4 November 2025 Scientists have uncovered a previously unknown disease mechanism at the core of a range of severe genetic disorders. Researchers at the University of Wisconsin-Madison focused on the protective caps on the ends of chromosomes, which are bundles of proteins and DNA that store genetic information, known as telomeres. Those protective caps become shorter and shorter as a person ages, a natural occurrence that scientists posit is responsible for a range of disorders in the elderly, including anemia, liver and pulmonary diseases, hardened, narrowed arteries and cancers. undefinedundefined Full Screen (F) Pause (SPACE) Read More (Shift + O) ?lit$890725653$? Continue watchingafter the adVisit Advertiser websiteGO TO PAGE A key enzyme, telomerase, is known to maintain the health of these protective caps. Now, scientists have discovered that a protein called RPA is a first responder for damage. When a cap becomes frayed or exposed, RPA rushes in to coat the damage, forming a temporary protective shield. When this attachment fails, telomeres shorten, leading to cellular damage. This breakdown is a direct cause of several diseases, including the rare bone marrow failure syndrome aplastic anemia and certain blood cancers like acute myeloid leukemia. But this discovery directly impacts patients with diseases caused by short telomeres, as it opens a new path for understanding and potentially treating these conditions. Emily in Paris star Ashley Park was diagnosed with acute myeloid leukemia, a disease linked to dysfunctional RPA, at age 15 and has since recovered At 55, I finally tried Botox - then had a humiliating side effect 433 viewing now My wife died at 63. This is the everyday item that caused her cancer 72.2k viewing now My childhood ADHD drug was gateway to a 15-year addiction to Adderall 125 viewing now Dr Ci Ji Lim, a biochemist and lead researcher behind the latest study, said in a statement: ‘There are some patients with shortened telomere disorders that couldn’t be explained with our previous body of knowledge. ‘Now we have an answer to the underlying cause of some of these short telomere disease mutations: it is a result of RPA not being able to stimulate telomerase.’ Some of these conditions are rare. Aplastic anemia affects roughly 600 to 900 Americans, while about 22,010 people in the US are expected to be diagnosed with acute myeloid leukemia in 2025, with many patients dying mere months after being diagnosed. Harvard scientists discover cheap common supplement that REVERSES ageing Shortened telomeres have been linked to a range of other disorders that affect millions, such as pulmonary fibrosis, COPD and colorectal cancer, which affect around 200,000, 14.2 million and 107,000 Americans, respectively. For the study, scientists used a powerful AI tool named AlphaFold to map the shapes of tiny proteins in human cells, which let researchers see, for the first time, how RPA is essential for protecting the ends of chromosomes. When the end of a chromosome becomes exposed and fragile, RPA is the first to rush in. It wraps itself around the damaged spot, creating a temporary protective shield to prevent further harm. While shielding the area, RPA also acts as a beacon, sending a signal to the cell's specialized repair crew, the enzyme telomerase. When telomerase arrives, RPA makes direct contact with the enzyme. This supercharges telomerase, allowing it to lock on tightly and efficiently rebuild the protective cap, making it long and strong again. But if RPA is faulty, this repair can't happen. The machine-learning model shows the telomerase enzyme (multicolored), essential for telomere health. The blue RPA complex docks at a specific site to boost telomerase activity. Without this docking connection, telomerase cannot efficiently elongate telomeres, leading to the shortening linked to disease Evan Handler, star of Sex and the City and And Just Like That, is a survivor of acute myeloid leukemia, diagnosed at age 24, which he battled through cycles of chemotherapy, remission and recurrence over five years The team’s research has already given hope to doctors worldwide who treat a range of rare and deadly diseases, as they now know these diseases arise from faulty RPA. By pinpointing the specific interaction between RPA and telomerase as a critical facet of telomere elongation, the team’s findings will guide more precise genetic diagnostics. Now that scientists have identified the failed interaction between RPA and telomerase, others can focus their efforts more effectively on developing treatments for disorders associated with shortened telomeres. The ultimate goal is a drug that forces RPA and a specific part of the telomerase enzyme known as TERT to fix the communication breakdown that leads to shortened telomeres. Dr Lim said: ‘There are colleagues reaching out from France, Israel, and Australia. They just want to give a cause for their patient’s short telomere disease so that the patients and their families can understand what is happening and why. ‘With biochemical analysis, we can test their patients’ mutation to see if it impacts how RPA interacts with telomerase, and give the doctors insights into possible causes of their patients’ diseases.’ His lab’s research, published in the journal Science, opens new avenues for understanding and treating a spectrum of diseases. Share or comment on this article: Potential cause of unexplained diseases suffered by millions of Americans discovered by scientists... leading the way to cures Add comment
