Researchers from Duke-NUS Medical School (Duke-NUS) and Imperial College London (ICL) have identified a network of genes in the human brain that not only regulates normal cognitive abilities, but is associated with a range of neurodevelopmental disorders. This is the first time that such genetic convergence between cognition and these disorders has been identified.
Published in Nature Neuroscience on 21 December, the findings pave the way for alternative therapies to treat these disorders, which include autism, epilepsy, intellectual disability and schizophrenia.
The impairment of cognitive abilities is a core element associated with neurodevelopmental disorders; however, no connection was established between them, until now. The team initiated their research with a thorough study of all the genes that are active in the part of the human brain — the hippocampus — that plays a key role in the formation of memories. The researchers located a network of 150 genes which are highly active following birth. Within this network, about a third of these genes are mutated in various neurodevelopmental disorders. The majority of these genes known to cause these ailments had not formerly been linked to one another.
Associate Professor Enrico Petretto, senior co-author of the study and head of Duke-NUS’ Systems Genetics of Complex Disease Laboratory, hopes that the findings will contribute to advances in the fields of neurobiology and neurological disease. “We believe that studying gene networks in the brain can give us extra clues about the genetic cause of neurodevelopmental disorders and of their neurological comorbidities. The results of our study in the human brain show a previously unappreciated functional relationship between cognition and neurodevelopmental disorders’ genes. This gives us the first explanation to why the two seem to be related,” he said.
The research team utilised an innovative approach known as System Genetics to analyse gene networks. The method involved studying the key interactions between all genes in the human brain, instead of investigating the role of single genes in neurodevelopmental disease and variable cognitive capabilities.
Moving forward, the Duke-NUS team aims to identify the regulatory factors of the gene network, thus facilitating the development of novel strategies to treat neurodevelopmental disorders.
National University of Singapore.