Researchers have discovered a previously unknown genetic disease that causes signs of early aging along with serious problems in brain function.
The study, led by scientists at Sanford Burnham Prebys Medical Discovery Institute and international collaborators, sheds new light on how certain genetic changes can affect both the body and the brain.
The discovery began when doctors identified a family in which several teenagers showed unusual symptoms.
These young patients had prematurely whitening hair and other features often seen in rare aging conditions known as progeria syndromes.
However, unlike typical progeria cases, these individuals also experienced worsening movement difficulties, learning problems, and neurological decline.
This combination suggested that they were dealing with a different, previously unrecognized condition.
To find the cause, researchers used advanced genome sequencing to examine the patients’ DNA. They identified a mutation in a gene called IVNS1ABP.
This gene had not previously been linked to aging, brain disorders, or nerve disease, making the finding especially surprising.
To better understand how this mutation affects the body, scientists took skin cells from the patients and reprogrammed them into stem-like cells.
These cells were then guided to develop into early-stage brain cells, allowing researchers to study how the mutation influences cell behavior.
Under the microscope, the affected cells showed clear differences. They grew much more slowly than normal cells and appeared to enter a state known as cellular senescence.
In this state, cells stop dividing and functioning properly, often due to damage in their DNA. Further tests confirmed that these cells had multiple signs of genetic damage and increased levels of molecules linked to aging.
The researchers discovered that this damage occurs during cell division. Normally, cells divide in a precise and controlled way, but in the mutated cells, this process was disrupted. The team found that the mutation interferes with actin, a protein that helps maintain the structure and shape of cells.
Actin plays a key role during cell division by forming a ring that helps separate one cell into two. In the patients’ cells, this structure was misshapen and unstable, leading to uneven division and further damage. Over time, this can result in cell death or dysfunction, which may explain both the premature aging features and the neurological symptoms seen in patients.
Encouragingly, the researchers were able to partially correct these problems in the laboratory. By using certain chemicals to stabilize the actin structure, they improved the cells’ ability to divide normally. While this is still early-stage research, it suggests that targeting these cellular processes could one day lead to treatments.
The study highlights the power of combining genetic analysis with modern cell reprogramming techniques to uncover rare diseases and understand how they work. Researchers are now planning further studies, including experiments in animal models, to explore potential therapies.
In simple terms, this discovery not only identifies a new genetic disorder but also provides valuable insight into how cells age and function. It opens the door to future treatments that could help people affected by rare conditions—and possibly improve our understanding of aging more broadly.
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