Otizmin Şifresini Çözmek: Nörogelişimde Sinaptik Disfonksiyonun Rolü

Year 2025, Volume: 78 Issue: 3, 259 - 272, 30.09.2025

Filiz Çetinkaya , Duygu Bandırmalı , Güvem Gümüş Akay

https://doi.org/10.65092/autfm.1715662

Abstract

İnsan beyni, yaklaşık 100 trilyon sinaps içeren karmaşık nöronal ağlardan oluşmakta ve bu yapılar, işlevsel bağlantısallığın temelini oluşturmaktadır. Bu sinaptik bağlantılardaki bozulmalar, otizm spektrum bozukluğu (OSB) da dahil olmak üzere çeşitli nörolojik hastalıklarda kritik bir rol oynamaktadır. Erken gelişim sürecinde, OSB ile ilişkili genler çevresel stres faktörleri ile birlikte beyin gelişimini ve nöral devre oluşumunu etkiler. Sinaptik yapı ve işlevle ilişkili genler, OSB’de belirgin şekilde mutasyona uğramaktadır. Ayrıca, sinaptik metabolizmayı etkileyen çevresel faktörler ve mitokondriyal işlev bozukluğu da OSB'nin patofizyolojisine katkıda bulunmaktadır. Sinaptik disfonksiyon ile otizm semptomları arasındaki ilişkinin anlaşılması, terapötik yaklaşımlar açısından yeni bakış açıları sunabilir. Bu derleme, OSB’de sinaptik disfonksiyon ile ilgili bulguların genel bir değerlendirmesini sunmayı amaçlamaktadır.

Keywords

Otizm spektrum bozukluğu , Sinaptik iletim , Sinaps

Decoding Autism: The Role of Synaptic Dysfunction in Neurodevelopment

Abstract

The human brain is comprised of intricate neuronal networks that comprise approximately 100 trillion synapses, which underpin functional connectivity. Disruptions in these synaptic connections play a fundamental role in several neurological disorders, such as autism spectrum disorder (ASD). During early development, genes related to ASD, coupled with environmental stressors, effect brain development and neural circuit formation. Genes associated with the structure and functioning of synapses demonstrate a significant prevalence of mutations within individuals diagnosed with ASD. In addition, environmental factors and mitochondrial dysfunction affecting synaptic metabolism also contribute to the pathophysiology of ASD. Understanding the link between synaptic dysfunction and autism symptoms may provide new perspectives for therapeutic approaches. The purpose of the present analysis is to furnish the reader with an overview of the findings pertaining to synaptic dysfunction in ASD.

Keywords

Autism spectrum disorder , Synaptic transmission , Synapse

Supporting Institution

This study received no financial support.

Thanks

We would like to thank and apologize to those scientists whose works have not been cited in this article due to limited space.

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