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Genetic and epigenetic foundation of autism

Abstract

Autizam je definiran kao poremećaj u razvitku mozga i živčanog sustava u kritičnom periodu. Autizam, uz Rettov sindrom, Aspergerov sindrom i druge pripada u poremećaje autističnog spektra. Temeljni simptomi autizma su teškoće u socijalnim ponašanjima, komunikaciji i repetativna ponašanja, interesi i aktivnosti. Fenotip autizma je varijabilan i individualan što čini proučavanje i otkrivanje patofiziologije kompliciranim. Kroz godine istraživanja pokazalo se da je genetička komponenta vrlo jaka u autizmu. Identificirani su mnogi geni koji su bitni za pravilan razvoj mozga, a u slučaju disfunkcije sudjeluju u razvoju autizma. Nadalje, aktualna istraživanja pokazala su da i epigenski mehanizmi imaju značajnu ulogu u nastanku autističnog poremećaja. Mehanizmi poput DNA metilacije ili histonske acetilacije mogu utjecati na ekspresiju gena koji se smatraju rizičnim faktorima za autizam. Genski i epigenski fiziološki putevi su isprepleteni i dvosmjerni, mogu utjecati zasebno na razvoj autizma, ali i mogu utjecati jedan na drugoga i tako sudjelovati u razvoju autizma. Važno je razumjeti da identificirani geni, epigenske promjene, kemijske neravnoteže i okolišni faktori svi djeluju zajedno ili jedni na druge ili na razvoj živčanog sustava pridonoseći razvoju autizma. Zbog opsežne količine dostupne literature, pisanje radova koji sažimaju informacije o autizmu pridonijeti će istraživanjima i staviti u perspektivu trenutna znanjAutism is a neurodevelopmental disorder that falls under the Autistic spectre which encompasess other disorders like Rett syndrome, Aspergers syndrome, etc... The core symptoms of autistic disorder are: reduced social and communication abilities and repetative behaviour, interests and actions. The phenotype for autism is extremely variable and individual which makes understanding the patophysiology of the disorder difficult and complex. Throughout yeras of reasearch it has been established that many autism cases have a genetic cause. Specific genes have been identified which have an important role in neurodevelopment and in autism cases were shown to be dysfunctional. Furthermore, recent studies have shown the significance of epigenetics in autism reasearch. Epigenetic mechanisms such as DNA methylation or histone acetylation have been proven to influence gene expression of risk-factor genes for autism and expedite its development. Both genome and epigenome physiological pathways are intertwined and can influence the progress of autism development, but they can also influence each other in negative or positive ways. It is important to understand, all the identified genes, epigenetic changes, chemical imbalances and environmental factors work together and influence each other and neurodevelopment. As there is a significant amount of literature available on the topic, writing reviews summarizing all current data will be beneficial and will offer new perspective

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