Scientists have identified a new genetic disorder that causes premature aging in adolescents, raising concerns about its impact on physical development and brain function.
The study was conducted by the Sanford Burnham Prebys Institute in collaboration with an international team and has been published in the scientific journal "Nature Communications." According to the research, affected patients exhibit signs resembling progeria, such as early hair thinning and accelerated aging features, but in this case, it involves a previously unknown disease.
Initially, researchers focused on a group of adolescents showing symptoms similar to progeria. However, during analyses, it was noted that besides physical changes, patients also had neurological issues and progressive losses in motor and intellectual abilities, indicating a different disorder.
To identify the cause, scientists used advanced techniques, including genome sequencing to uncover DNA mutations. They identified a change in the INVS1ABP gene, which appears to play a key role in the development of the disease.
Additionally, researchers employed cellular reprogramming methods, taking skin cells from patients and converting them into stem cells. This allowed them to observe the mutation's impact on brain cells in the laboratory.
The results showed that affected cells develop more slowly and retain the mutation, helping researchers better understand the disease's mechanism.