Editorial: Synaptic Diseases: From Biology to Potential Therapy

Abstract

Mutations in genes encoding synaptic or synapse-related proteins that affect the structure and/or function of synapses are responsible for various forms of synaptopathies, including neurodevelopmental, neurodegenerative and psychiatric diseases (Lepeta et al., 2016; Lima Caldeira et al., 2019; Bonnycastle et al., 2021; Germann et al., 2021). Understanding how disease causing genes affect synapse structure and function, and cause circuit and behavioral dysfunction, has been a focus of neuroscience research over several decades. Many challenges remain to be addressed, from identifying rare disease-associated genes, defining the molecular and cellular mechanisms by which the genetic mutations confer disease risk and manifest as phenotypes, understanding how thesemutations affect circuit function, plasticity and behavior, to whether therapeutic interventions can restore function. Studying the pathophysiologic mechanisms underlying synaptopathies will lead to a better understanding of the molecular and cellular mechanisms that govern normal nervous system function, and may eventually help to discover impactful therapeutics (Wang and Doering, 2015; Lepeta et al., 2016; Lima Caldeira et al., 2019; Carroll et al., 2021). This Research Topic has focused on advances in studying common synaptopathies, collecting 31 research and review articles ranging from new insights into fundamental synapse biology to potential therapeutic strategies. Here we summarize each of these articles as a guide to the Research Topic, and highlight the many new research questions stimulated by the work.