Molecular architecture of the altered cortical complexity in autism
Abstract Autism spectrum disorder (ASD) is characterized by difficulties in social interaction, communication challenges, and repetitive behaviors. Despite extensive research, the molecular mechanisms underlying these neurodevelopmental abnormalities remain elusive. We integrated microscale brain ge...
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| Format: | Article |
| Language: | English |
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BMC
2025-01-01
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| Series: | Molecular Autism |
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| Online Access: | https://doi.org/10.1186/s13229-024-00632-2 |
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| _version_ | 1841544575543410688 |
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| author | Makliya Mamat Yiyong Chen Wenwen Shen Lin Li |
| author_facet | Makliya Mamat Yiyong Chen Wenwen Shen Lin Li |
| author_sort | Makliya Mamat |
| collection | DOAJ |
| description | Abstract Autism spectrum disorder (ASD) is characterized by difficulties in social interaction, communication challenges, and repetitive behaviors. Despite extensive research, the molecular mechanisms underlying these neurodevelopmental abnormalities remain elusive. We integrated microscale brain gene expression data with macroscale MRI data from 1829 participants, including individuals with ASD and typically developing controls, from the autism brain imaging data exchange I and II. Using fractal dimension as an index for quantifying cortical complexity, we identified significant regional alterations in ASD, within the left temporoparietal, left peripheral visual, right central visual, left somatomotor (including the insula), and left ventral attention networks. Partial least squares regression analysis revealed gene sets associated with these cortical complexity changes, enriched for biological functions related to synaptic transmission, synaptic plasticity, mitochondrial dysfunction, and chromatin organization. Cell-specific analyses, protein–protein interaction network analysis and gene temporal expression profiling further elucidated the dynamic molecular landscape associated with these alterations. These findings indicate that ASD-related alterations in cortical complexity are closely linked to specific genetic pathways. The combined analysis of neuroimaging and transcriptomic data enhances our understanding of how genetic factors contribute to brain structural changes in ASD. |
| format | Article |
| id | doaj-art-3653ede554ba443abbb2008ac38e6f44 |
| institution | Kabale University |
| issn | 2040-2392 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Autism |
| spelling | doaj-art-3653ede554ba443abbb2008ac38e6f442025-01-12T12:26:15ZengBMCMolecular Autism2040-23922025-01-0116111310.1186/s13229-024-00632-2Molecular architecture of the altered cortical complexity in autismMakliya Mamat0Yiyong Chen1Wenwen Shen2Lin Li3School of Basic Medical Sciences, Health Science Center, Ningbo UniversitySchool of Basic Medical Sciences, Health Science Center, Ningbo UniversityAffiliated Kangning Hospital of Ningbo UniversityHuman Anatomy Department, Nanjing Medical UniversityAbstract Autism spectrum disorder (ASD) is characterized by difficulties in social interaction, communication challenges, and repetitive behaviors. Despite extensive research, the molecular mechanisms underlying these neurodevelopmental abnormalities remain elusive. We integrated microscale brain gene expression data with macroscale MRI data from 1829 participants, including individuals with ASD and typically developing controls, from the autism brain imaging data exchange I and II. Using fractal dimension as an index for quantifying cortical complexity, we identified significant regional alterations in ASD, within the left temporoparietal, left peripheral visual, right central visual, left somatomotor (including the insula), and left ventral attention networks. Partial least squares regression analysis revealed gene sets associated with these cortical complexity changes, enriched for biological functions related to synaptic transmission, synaptic plasticity, mitochondrial dysfunction, and chromatin organization. Cell-specific analyses, protein–protein interaction network analysis and gene temporal expression profiling further elucidated the dynamic molecular landscape associated with these alterations. These findings indicate that ASD-related alterations in cortical complexity are closely linked to specific genetic pathways. The combined analysis of neuroimaging and transcriptomic data enhances our understanding of how genetic factors contribute to brain structural changes in ASD.https://doi.org/10.1186/s13229-024-00632-2AutismCortical complexityTranscriptomicsAllen human brain atlasNeuroimaging |
| spellingShingle | Makliya Mamat Yiyong Chen Wenwen Shen Lin Li Molecular architecture of the altered cortical complexity in autism Molecular Autism Autism Cortical complexity Transcriptomics Allen human brain atlas Neuroimaging |
| title | Molecular architecture of the altered cortical complexity in autism |
| title_full | Molecular architecture of the altered cortical complexity in autism |
| title_fullStr | Molecular architecture of the altered cortical complexity in autism |
| title_full_unstemmed | Molecular architecture of the altered cortical complexity in autism |
| title_short | Molecular architecture of the altered cortical complexity in autism |
| title_sort | molecular architecture of the altered cortical complexity in autism |
| topic | Autism Cortical complexity Transcriptomics Allen human brain atlas Neuroimaging |
| url | https://doi.org/10.1186/s13229-024-00632-2 |
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