Mutações no Gene Shank3 Relacionadas Ao Transtorno do Espectro Autista: Uma Revisão da Literatura

Abstract

Autism is one of the complex neurodevelopmental disorders that involves genetic and environmental factors. It is one of the multifactorial dysfunctions that most affect children before 3 years of age, and it affects many brain fields that are still little known. The aim of this study was to present a broad view of possible molecular events in the SHANK3 gene that are related to the development of autistic spectrum disorder (ASD), clarifying how mutations and haploinsufficiency in this gene can influence its etiology, pathophysiology and treatment. An integrative literature search was carried out to identify and select articles that dealt with mutations and haploinsufficiency in this gene. In a search in Pub Med, 190 articles were found, of which 35 were selected as relevant to this study, carried out between the periods of May 2021 and October 2021 for this literature review, as a way to better contemplate the findings on this subject . Several studies have provided evidence that mutations in the SHANK3 gene as well as its haploinsufficiency are promising findings to explain the etiology of this disorder, and that its alterations significantly affect the

regulation of specific parts of the brain, responsible for the ability of verbal and non- verbal language, by the process of social interaction, among other behaviors specific

to the ASD. The investigations carried out on the subject suggested that SHANK3 may be one of the genes involved in the process of ASD development, since it is one of the main regulators of synaptic functions, which are altered in most autistic individuals, being one of those responsible for trigger the onset of this disorder. However, its performance is also influenced by a series of other genes that are still unclear, which are also responsible for working together with SHANK3. As this dysfunction is still of a complex nature and involves the action of multiple genes and distinct phenotypes, many studies still need to be done to elucidate it, because only then, with the discovery of the specific regions and genes involved in this disorder, that the treatment and diagnosis can be more specific and effective, helping those affected to make significant progress in this disorder.