AI Article Synopsis
- Copy-number variants of the CYFIP1 gene have been linked to autism spectrum disorders (ASD) and schizophrenia (SCZ), both associated with brain connectivity issues.
- Research indicates that mice with reduced CYFIP1 expression exhibit decreased functional connectivity and white matter problems, paralleling symptoms in humans with ASD and SCZ.
- Additionally, CYFIP1 deficiency leads to motor coordination issues and altered sensory perception, highlighting its role in brain function and its potential genetic connection to neuropsychiatric disorders.
Article Abstract
Copy-number variants of the CYFIP1 gene in humans have been linked to autism spectrum disorders (ASD) and schizophrenia (SCZ), two neuropsychiatric disorders characterized by defects in brain connectivity. Here, we show that CYFIP1 plays an important role in brain functional connectivity and callosal functions. We find that Cyfip1-heterozygous mice have reduced functional connectivity and defects in white matter architecture, similar to phenotypes found in patients with ASD, SCZ and other neuropsychiatric disorders. Cyfip1-deficient mice also present decreased myelination in the callosal axons, altered presynaptic function, and impaired bilateral connectivity. Finally, Cyfip1 deficiency leads to abnormalities in motor coordination, sensorimotor gating and sensory perception, which are also known neuropsychiatric disorder-related symptoms. These results show that Cyfip1 haploinsufficiency compromises brain connectivity and function, which might explain its genetic association to neuropsychiatric disorders.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672001 | PMC |
| http://dx.doi.org/10.1038/s41467-019-11203-y | DOI Listing |
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