New Genetic Disease Linked to Early Aging, Cognitive Decline

Researchers identify mutation in IVNS1ABP gene as cause of premature aging and neurological deficits

Mar. 25, 2026 at 5:36am

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Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team have defined a new genetic disease marked by premature aging and deficits in brain function. The researchers used genome sequencing and cellular reprogramming to trace the disease to a mutation in the IVNS1ABP gene, which affects actin dynamics and cell division, leading to cellular senescence and DNA damage.

Why it matters

This discovery provides new insights into the genetic basis of premature aging conditions and could lead to potential treatments by targeting the molecular processes disrupted by the IVNS1ABP mutation. Understanding rare genetic diseases can also shed light on more common age-related neurological disorders.

The details

The research team found that patient-derived cells with the IVNS1ABP mutation grew much slower compared to controls, suggesting the cells had entered a senescent state. Further experiments revealed the mutation was causing DNA damage during cell division due to altered actin dynamics and an inability to properly coordinate the cell division process. The scientists were able to improve cell division rates by stabilizing the actin structure.

  • The study was published on March 19, 2026 in Nature Communications.
  • The researchers first identified the affected family of patients whose teenage members exhibited premature aging characteristics.

The players

Su-Chun Zhang

The senior and corresponding author, the Jeanne and Gary Herberger Leadership Chair in Neuroscience, and the director of and professor in the Center for Neurologic Diseases at Sanford Burnham Prebys.

Fang Yuan

The first author of the study and a staff scientist at Sanford Burnham Prebys.

Sanford Burnham Prebys Medical Discovery Institute

The research institution where the study was conducted.

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What they’re saying

“Our collaborator identified a family of patients whose teenaged members had whitening hairs and other characteristics associated with premature aging conditions known as progeria syndromes.”

— Su-Chun Zhang, Senior and corresponding author

“Relatively little research has been done on this gene and protein, and no one has ever linked them to the biology of aging, premature aging diseases or neuropathy.”

— Fang Yuan, First author

“When these actin dynamics are altered, the cell cannot perform cell division at the right time and in the right place.”

— Fang Yuan, First author

What’s next

The researchers are developing an animal model to further study the effects of the IVNS1ABP mutation and test potential treatments identified through the cellular reprogramming experiments.

The takeaway

This study demonstrates the power of combining genomic sequencing and stem cell technology to uncover the genetic basis of rare and unknown diseases. The findings provide new avenues for understanding the molecular mechanisms underlying premature aging and neurological decline, which could lead to therapies for this newly discovered genetic condition as well as more common age-related disorders.