Synaptic Dysfunction Attributes to Autism Spectrum Disorder
Yougen Zhan, MD, PhD;* Xuejun Kong, MD
Autism spectrum disorders (ASD) are a range of high prevalent disorders that can be characterized as a syndrome of social communication deficits, repetitive behavior or restrictive interest. Rapid advance beyond environmental influence is made through identifications of associated genetic variations. Emerging evidence from human and animal models demonstrate impairment in synaptic function is an etiology of ASD. This review focuses on several synaptic proteins that are mutated in some patients and their autistic behaviors and cognitive deficits are recapitulated in animal models.
Key Words: ASD, synapse, mutation, neurexin, neuroligin and SHANK ASD, synapse, mutation, neurexin, neuroligin and SHANK
Yougen Zhan, MD, PhD;1* Xuejun Kong, MD2
1 Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA
2 Department of Medicine, Beth Israel Medical Center, Harvard Medical School, Boston, MA
*Corresponding Author: Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115. (Email: ygzhan@gmail.com)
CONFLICT OF INTEREST
None.