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Researchers Believe Some Forms of Autism May Be Explained by DNA Damage in Brain Cells

While autism affects millions of people worldwide, its exact causes remain a mystery to scientific and medical experts. A potential breakthrough occurred last month, when researchers identified a pattern of DNA damage that occurs during brain cell division and development, which they believe may be responsible for autism.

In the new study, scientists from the Salk Institute in La Jolla, California observed the pattern in brain cells derived from individuals with a macrocephalic form of autism spectrum disorder. People with this form of the condition typically have abnormally large heads. Rusy Gage, president of the Salk Institute and a co-author of the study, explained that, “Division, or replication, is one of the most dangerous things that a cell can do.” In 2016, Gage and his colleagues found that brain stem cells collected from people with macrocephalic autism grew more quickly than cells from people without autism. Gage believes this finding explains, at least partially, why many people with autism also have macrocephaly. In their new study, the researchers analyzed neural precursor cells, or “NPCS,” to learn whether the DNA damage that occurs during the stress of replication was more common in people with autism. They also collected skin cells from individuals with autism and microcephaly, along with cells from individuals without autism. Stem cell reprogramming technology was then used to turn each person’s cells into NPCs, after which a chemical compound was used to induce replication stress on the NPCs derived from people without autism. After comparing this induced cell damage to naturally occurring cell damage in people with autism, the researchers found the NPCs from autistic individuals had higher levels of cell damage. Based on their findings, the researchers believe the rapid increase of NPCS may lead to macrocephaly and cellular stress that spurs DNA damage, which could be a source of mutations connected with autism. The study’s findings were published last month in the journal Cell Stem Cell. Meiyan Wang, a co-author of the study, said she and her colleagues would, “Like to look deeper at how replication stress and DNA damage affects neuronal function in the long term and whether adult neurons arising from these stem cells have more mutations than usual." Source:

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