CNVs inform the biological network of Autism spectrum disorder
| Autor: | Marco Calabrò, Maria Angela La Rosa, Anna Paola Capra, Silvana Briuglia, Concetta Crisafulli |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Genetics
DNA Copy Number Variations Genotype Autism Spectrum Disorder Genetic heterogeneity Inheritance (genetic algorithm) Heritability Biology medicine.disease behavioral disciplines and activities 030227 psychiatry 03 medical and health sciences Psychiatry and Mental health 0302 clinical medicine Autism spectrum disorder ASD CNV Pathway analysis Oxidative stress Immune system Energy metabolism mental disorders medicine Humans Copy-number variation Gene 030217 neurology & neurosurgery Biological Psychiatry Biological network Function (biology) |
| Zdroj: | Psychiatry Research. 297:113729 |
| ISSN: | 0165-1781 |
| Popis: | Autism spectrum disorder (ASD) is a heterogeneous condition linked to an anomalous neurodevelopment. Although the underlying causes of ASD are not well described, literature data strongly suggests a genetic component, with a complex inheritance pattern. It has recently been observed that CNVs (copy number variation) may play an important role in ASD manifestation and partially explain the complex heritability of this tract. Another factor That adds another level of complexity to ASD is its potential genetic heterogeneity. In this paper, we hypothesize that the different patterns of alteration within individuals with ASD may converge towards the same function. We genotyped a sample of 107 individuals through aCGH analysis for CNVs that were related (by localization) to approximately 1400 genes. The genes were tested for functional interactions and clustered in functional groups. We highlighted a functional genetic cluster of 256 genes potentially related to ASD. These altered genes may contribute to the same function, alterations of which increase the risk of ASD. After testing our functional cluster for biological functions, processes related to oxidative stress, immune system and energy metabolism are the pathways potentially involved with the biological alterations underlying ASD. |
| Databáze: | OpenAIRE |
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