Alterations of presynaptic proteins in autism spectrum disorder

Xin Yi Yeo; Yi Tang Lim; Woo Ri Chae; Chungwon Park; Hyokeun Park; Sangyong Jung

doi:10.3389/fnmol.2022.1062878

Alterations of presynaptic proteins in autism spectrum disorder

Front Mol Neurosci. 2022 Nov 17:15:1062878. doi: 10.3389/fnmol.2022.1062878. eCollection 2022.

Authors

Xin Yi Yeo^{1

2}, Yi Tang Lim¹, Woo Ri Chae^{1

3}, Chungwon Park⁴, Hyokeun Park^{4

5

6}, Sangyong Jung^{1

7}

Affiliations

¹ Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore, Singapore.
² Department of Psychological Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
³ Department of BioNano Technology, Gachon University, Seongnam, South Korea.
⁴ Division of Life Science, The Hong Kong University of Science and Technology, Kowloon, Hong Kong SAR, China.
⁵ Department of Physics, The Hong Kong University of Science and Technology, Kowloon, Hong Kong SAR, China.
⁶ State Key Laboratory of Molecular Neuroscience, The Hong Kong University of Science and Technology, Kowloon, Hong Kong SAR, China.
⁷ Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.

Abstract

The expanded use of hypothesis-free gene analysis methods in autism research has significantly increased the number of genetic risk factors associated with the pathogenesis of autism. A further examination of the implicated genes directly revealed the involvement in processes pertinent to neuronal differentiation, development, and function, with a predominant contribution from the regulators of synaptic function. Despite the importance of presynaptic function in synaptic transmission, the regulation of neuronal network activity, and the final behavioral output, there is a relative lack of understanding of the presynaptic contribution to the pathology of autism. Here, we will review the close association among autism-related mutations, autism spectrum disorders (ASD) phenotypes, and the altered presynaptic protein functions through a systematic examination of the presynaptic risk genes relating to the critical stages of synaptogenesis and neurotransmission.

Keywords: autism spectrum disorders (ASD); presynaptic proteins; presynaptic vesicle dynamics; synaptogenesis; synaptopathy; vesicle release machinery.

Publication types

Review