Abstract
Many studies have found a variety of SHANK3 mutants in Autism spectrum disorder (ASD) patients, and SHANK3 mutants are believed to be closely related to ASD. SHANK3 is a gene on chromosome 22 that encodes a postsynaptic density scaffold protein and is often considered to play an indispensable role in glutamatergic synapses. ASD has a rather complex mechanism and is not fully understood. It is related to many genes, and SHANK3 is a strong candidate gene. Many studies have found that a variety of SHANK3 mutant genes, especially de novo SHANK3 gene, can cause decreased excitability and even spinal dysplasia, which becomes one of the important contributing genes of ASD. ASD symptoms have also been observed by direct modification of SHANK3 gene using CRISPR in various experimental animals. At present, there are many treatments for ASD, but none of them can cure ASD. Improving knowledge of the association between the SHANK3 gene and ASD and additional research on this subject may be one of the potential therapy modalities.
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