Ashkan Pourtavakoli1, Soudeh Ghafouri-Fard2. 1. Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 2. Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. s.ghafourifard@sbmu.ac.ir.
Abstract
BACKGROUND: Autism spectrum disorder (ASD) covers a group of neurodevelopmental disorders with complex genetic background. Several genetic mutations, epigenetic alterations, copy number variations and single nucleotide polymorphisms have been reported that cause ASD or modify its phenotype. Among signaling pathways that influence pathogenesis of ASD, calcium signaling has a prominent effect. METHODS: We searched PubMed and Google Scholar databases with key words "Calcium signaling" and "Autism spectrum disorder". CONCLUSION: This type of signaling has essential roles in the cell physiology. Endoplasmic reticulum and mitochondria are the key organelles involved in this signaling. It is vastly accepted that organellar disorders intensely influence the central nervous system (CNS). Several lines of evidence indicate alterations in the function of calcium channels in polygenic disorders affecting CNS. In the current review, we describe the role of calcium signaling in normal function of CNS and pathophysiology of ASD.
BACKGROUND: Autism spectrum disorder (ASD) covers a group of neurodevelopmental disorders with complex genetic background. Several genetic mutations, epigenetic alterations, copy number variations and single nucleotide polymorphisms have been reported that cause ASD or modify its phenotype. Among signaling pathways that influence pathogenesis of ASD, calcium signaling has a prominent effect. METHODS: We searched PubMed and Google Scholar databases with key words "Calcium signaling" and "Autism spectrum disorder". CONCLUSION: This type of signaling has essential roles in the cell physiology. Endoplasmic reticulum and mitochondria are the key organelles involved in this signaling. It is vastly accepted that organellar disorders intensely influence the central nervous system (CNS). Several lines of evidence indicate alterations in the function of calcium channels in polygenic disorders affecting CNS. In the current review, we describe the role of calcium signaling in normal function of CNS and pathophysiology of ASD.
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