Genetic determinants of autism spectrum disorders - a review

Abstract

Abstract Introduction: It is estimated that various types of abnormalities from the autistic spectrum disorder occur in up to 2% of the population. These include difficulties in maintaining relationships, communication, and repetitive behaviours. Literature describes them quite well, in contrast to the causes of these disorders, which include both environmental factors and a very long list of genetic aberrations. Materials and methods: The papers available on the PubMed platform and other sources were reviewed to describe the most important genetic factors responsible for the development of autism spectrum disorders. Results: There are many genes and their mutations associated with the prevalence of autism spectrum disorders in patients. One of the main factors is the SHANK gene family, with the type and degree of abnormality in patients depending on the damage to particular genes: SHANK1-SHANK3. Research also shows the potential of targeted symptom-relieving therapies in patients with SHANK3 mutations. A correlation with the occurrence of autism has also been demonstrated for genes responsible for calcium signaling - especially the group of IP3R calcium channels. Their calcium transmission is abnormal in the majority of patients with autism spectrum disorders. A number of mutations in the 7q region were discovered - including the AUTS2, GNAI1, RELN, KMT2E, BRAF genes - the occurrence of which is associated with the presence of symptoms of autism. Autism spectrum disorders occur in about 10% of patients suffering from monogenic syndromes such as fragile X chromosome syndrome, Timothy syndrome, tuberous sclerosis, Rett syndrome or hamartomatic tumor syndrome. Conclusions: Research shows that many mutations can contribute to the development of autism spectrum disorders. Further studies are necessary to discover their therapeutic and diagnostic potential for autism.