Two papers published in Nature have shed new light on the influence of genetic factors on autism, identifying potential genes which may influence the development of autism and autistic spectrum disorders.
Prof Anthony P Monaco, Wellcome Trust Centre for Human Genetics, University of Oxford, said:
“Three genome-wide association and copy number variant (CNV) studies have been carried out to date by scientists and clinicians interested in identifying susceptibility genes for autism. One study reports today in Nature a significant association with a region between two genes on chromosome 5 involved in neuronal cell adhesion, and CNVs in genes involved in the formation of brain cell connections call synapses. Other large studies have found similar results but with different genes involved in synapse biology.
“Our own group in Oxford reported today in Molecular Psychiatry that a separate gene on chromosome 7 called DOCK4 is also significantly associated with autism and is involved in extensions of brain cells that form synapses. All of these studies confirm two main points about autism:
1) There are many genes involved, each of small effect or found in only a minority of cases and this has implications for future diagnostic testing and
2) Most of the genes identified are involved in the connections between neurons called synapses, which now focuses our future studies on treatments or intervention therapies that use this new knowledge.”