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New Study Links Autism With Mutations in Little-Known Gene

A new study from researchers in Houston, Texas has found a link between autism and mutations in BAZ2B, a gene that is highly active in the brains of infants while they’re still in the womb. According to a report by Spectrum News, the research was led by Darryl Scott, associate professor of molecular and human genetics at Baylor College of Medicine in Houston. Scott explained that the BAZ2B gene is important for genes that need to be turned on when the brain is developing. When BAZ2B is not working properly, developmental delays, intellectual disability, and autism may occur as a result. BAZ2NB is also involved in opening up chromatin, the package of DNA and proteins inside of a cell’s nucleus. The researchers involved in the new study analyzed data from BrainSpan, an atlas of gene expression data for people of various ages. They found that BAZ2B is expressed at higher levels in the brain while in the womb rather than after birth, suggesting the gene is involved in fetal brain development. The way that BAZ2B is expressed in the fetal brain matched hundreds of other genes linked to autism and related conditions. The study’s findings were published in January in the journal Human Mutation. The study’s findings suggest that BAZ2B could play a role in controlling the expression of other autism genes as well. In addition to BrainSpan, Scott and his team analyzed sequencing data from almost 11,000 people with autism, intellectual disability, or other developmental conditions. Five of those people were found to have spontaneous mutations BAZ2B, a higher frequency than one would expect in a group of that size. Scott and his team believe that, while most people have two copies of the BAZ2B gene, in people with mutations only one is fully functional. Researchers have yet to determine how these mutations increase the risk of autism. “We would have to see many, many more kids and get a better feel for the type of spectrum that’s out there,” Scott was quoted as saying by Spectrum. “But this is a first step.”

Source: https://www.spectrumnews.org/news/little-known-gene-tied-to-autism-developmental-delay/

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