HomeScienceGeneticsGenetic mutations called structural variants are linked to autism spectrum disorders

Genetic mutations called structural variants are linked to autism spectrum disorders

A research team led by ORNL’s Michael Garvin, left, and David Kainer discovered genetic mutations called structural variants and linked them to autism spectrum disorders, demonstrating an approach that could be used to develop better diagnostics and drug therapies. Credits: Carlos Jones/ORNL, US Dept. or Energy

An Oak Ridge National Laboratory-led research team discovered genetic mutations underlying autism using a new approach that could lead to better diagnostics and drug therapies.

Their study is published in Advances in human genetics and genomics.

Scientists estimate that 80% of autism is hereditary, but they have yet to identify the causative genes.

“We realized the value of untapped hereditary information from other people’s research,” says ORNL’s Michael Garvin. Garvin and colleagues focused on genomic mutations called structural variants and made a direct link to autism traits.

The key was to observe so much structural variants excluded because they often show non-traditional inheritance patterns. By focusing on these variants, ORNL scientists found a mutation in the ACMSD gene that is associated with nonverbal forms of autism. Then they used artificial intelligence and high-performance computing to find additional variants associated with three autism subtypes.

“We’ve established a workflow for using this oft-ignored data that can be applied not only to autism, but to other conditions as well,” said ORNL’s David Kainer.

More information:
David Kainer et al. Structural variants identified using non-Mendelian inheritance patterns advance mechanistic understanding of autism spectrum disorder, Advances in human genetics and genomics (2022). DOI: 10.1016/j.xhgg.2022.100150

Provided by Oak Ridge National Laboratory

Quote: Genetic Mutations, Called Structural Variants, Linked to Autism Spectrum Disorders (2022, Nov. 21) Retrieved Nov. 21, 2022 from https://medicalxpress.com/news/2022-11-genetic-mutations-variants-linked-autism.html

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