SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties
Mutations in SHANK3 and large duplications of the region spanning SHANK3 both cause a spectrum of neuropsychiatric disorders, indicating that proper SHANK3 dosage is critical for normal brain function. However, SHANK3 overexpression per se has not been established as a cause of human disorders because 22q13 duplications involve several genes. Here we report that Shank3 transgenic mice modelling a human SHANK3 duplication exhibit manic-like behaviour and seizures consistent with synaptic excitatory/inhibitory imbalance. We also identified two patients with hyperkinetic disorders carrying the smallest SHANK3-spanning duplications reported so far. These findings indicate that SHANK3 overexpression causes a hyperkinetic neuropsychiatric disorder. To probe the mechanism underlying the phenotype, we generated a Shank3 in vivo interactome and found that Shank3 directly interacts with the Arp2/3 complex to increase F-actin levels in Shank3 transgenic mice. The mood-stabilizing drug valproate, but not lithium, rescues the manic-like behaviour of Shank3 transgenic mice raising the possibility that this hyperkinetic disorder has a unique pharmacogenetic profile.
- Boston Children's Hospital United States
- Howard Hughes Medical Institute United States
- Baylor College of Medicine United States
- Korea Institute of Science & Technology Information Korea (Republic of)
- BAYLOR COLLEGE OF MEDICINE
Adult, Male, Bipolar Disorder, Behavior, Animal, Chromosomes, Human, Pair 22, Gene Dosage, Excitatory Postsynaptic Potentials, Gene Expression, Mice, Transgenic, Hyperkinesis, Lithium, Article, Actin-Related Protein 2-3 Complex, Actins, Disease Models, Animal, Mice, Inhibitory Postsynaptic Potentials, Genes, Duplicate, Animals, Humans, Female
Adult, Male, Bipolar Disorder, Behavior, Animal, Chromosomes, Human, Pair 22, Gene Dosage, Excitatory Postsynaptic Potentials, Gene Expression, Mice, Transgenic, Hyperkinesis, Lithium, Article, Actin-Related Protein 2-3 Complex, Actins, Disease Models, Animal, Mice, Inhibitory Postsynaptic Potentials, Genes, Duplicate, Animals, Humans, Female
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