Sensitivity to isoflurane anesthesia increases in autism spectrum disorder Shank3 +/∆c mutant mouse model

Li, Changsheng; Schaefer, Michele L.; Gray, Christy D.; Yang, Yilin; Furmanski, Orion; Liu, Sufang; Worley, Paul F.; Mintz, C. David; Tao, Feng; Johns, Roger A.

doi:10.1016/j.ntt.2016.11.002

Cited by 15 publications

(6 citation statements)

References 68 publications

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“…Hence, decreased locomotion in the open field has been reported in many existing models including models with Δ4-9, Δ13-16, Δ21 deletions, or point mutations ( Yang et al, 2012 ; Kouser et al, 2013 ; Speed et al, 2015 ; Bidinosti et al, 2016 ; Mei et al, 2016 ; Zhou et al, 2016 ; Copping et al, 2017 ) even if not always replicated in other models with similar or different deletions (Δ4-9, Δ9, Δ13, Δ13-16, Δ21; Peça et al, 2011 ; Drapeau et al, 2014 ; Duffney et al, 2015 ; Lee et al, 2015 ; Jaramillo et al, 2016, 2017 ). Similarly, motor learning in accelerating rotarod was found to be impaired in Δ4-9, Δ11, Δ13, Δ13-16, and Δ21 models ( Bozdagi et al, 2010 ; Wang et al, 2011 ; Yang et al, 2012 ; Kouser et al, 2013 ; Zhu et al, 2014 ; Speed et al, 2015 ; Mei et al, 2016 ; Jaramillo et al, 2017 ; Vicidomini et al, 2017 ) although not replicated in other studies (Δ4-9, Δ13-16, or Δ2; Peça et al, 2011 ; Drapeau et al, 2014 ; Duffney et al, 2015 ; Bidinosti et al, 2016 ; Jaramillo et al, 2016 ; Li et al, 2017 ). In agreement with Wang et al (2011) , both spontaneous locomotion and rotarod learning were strongly impaired in our Shank3 Δ4–22 mouse model.…”

Section: Discussionmentioning

confidence: 72%

Behavioral Phenotyping of an Improved Mouse Model of Phelan–McDermid Syndrome with a Complete Deletion of theShank3Gene

Drapeau

Riad

Kajiwara

et al. 2018

eNeuro

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Phelan–McDermid syndrome (PMS) is a rare genetic disorder in which one copy of the SHANK3 gene is missing or mutated, leading to a global developmental delay, intellectual disability (ID), and autism. Multiple intragenic promoters and alternatively spliced exons are responsible for the formation of numerous isoforms. Many genetically-modified mouse models of PMS have been generated but most disrupt only some of the isoforms. In contrast, the vast majority of known SHANK3 mutations found in patients involve deletions that disrupt all isoforms. Here, we report the production and thorough behavioral characterization of a new mouse model in which all Shank3 isoforms are disrupted. Domains and tasks examined in adults included measures of general health, neurological reflexes, motor abilities, sensory reactivity, social behavior, repetitive behaviors, cognition and behavioral inflexibility, and anxiety. Our mice are more severely affected than previously published models. While the deficits were typically more pronounced in homozygotes, an intermediate phenotype was observed for heterozygotes in many paradigms. As in other Shank3 mouse models, stereotypies, including increased grooming, were observed. Additionally, sensory alterations were detected in both neonatal and adult mice, and motor behavior was strongly altered, especially in the open field and rotarod locomotor tests. While social behaviors measured with the three-chambered social approach and male-female interaction tests were not strongly impacted, Shank3-deficient mice displayed a strong escape behavior and avoidance of inanimate objects in novel object recognition, repetitive novel object contact, marble burying, and nest building tasks, indicating increased novelty-induced anxiety. Similarly, increased freezing was observed during fear conditioning training and amygdala-dependent cued retrieval. Finally, deficits were observed in both initial training and reversal in the Barnes maze and in contextual fear testing, which are memory tasks involving hippocampal-prefrontal circuits. In contrast, working memory in the Y-maze spontaneous alternation test was not altered. This new mouse model of PMS, engineered to most closely represent human mutations, recapitulates core symptoms of PMS providing improvements for both construct and face validity, compared to previous models.

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Section: Discussionmentioning

confidence: 72%

Behavioral Phenotyping of an Improved Mouse Model of Phelan–McDermid Syndrome with a Complete Deletion of theShank3Gene

Drapeau

Riad

Kajiwara

et al. 2018

eNeuro

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“…In consideration of the multiple procedural anesthesia, essential for radiological follow-up, the involvement of the multidisciplinary team, turned out to be crucial for reducing the risks associated with sedation. Indeed, Shank3 mutation confers enhanced sensitivity to isoflurane volatile anesthetic in central nervous systems of mutant mice models (16). This aspect deserves further study considering the important clinical implications, such as to avoid excessive use of volatile anesthetics, and suggests that this vulnerable set of patients may need additional monitoring during anesthesia.…”

Section: Discussionmentioning

confidence: 99%

“…In the literature, patients with autism spectrum disorders or PMDS do not show an increased incidence of adverse events post-procedural sedation with midazolam (14,15). Li et al have examined whether sensitivity to isoflurane anesthesia is altered in genetic mouse model of PMDS (Shank3 deleted), they showed that Shank3 deletion confers enhanced sensitivity to isoflurane (16).…”

Section: Introductionmentioning

confidence: 99%

Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone

et al. 2021

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Atypical teratoid/rhabdoid tumors (AT/RTs) in the rhabdoid tumor predisposition syndromes are most often caused by germline mutations of the SMARCB1 gene located in chromosome 22q11.2. Although rarely, it can also result from the constitutional ring chromosome 22 (r22): during mitosis the ring chromosome may lead to an increased rate of somatic mutations, resulting in rhabdoid tumor predispositions when the tumor-suppressor gene SMARCB1 is involved. Individuals with r22 may present similar features as those with Phelan-McDermid syndrome (PMDS) due to 22q13.3 deletion, including the SHANK3 gene. Despite several reports on AT/RT in children with r22 and/or PMDS have been published, the role of constitutional r22 as new oncogenic mechanism for AT/RT is still under investigation. There is not a lot of data available on therapeutic and prognostic implications of r22 in AT/RT and PMDS. Herein, we present the first case of a child with constitutional r22, PMDS and AT/RT of the brain, who is a long term survivor and is been treated with growth hormone. We also describe an unexpected adverse reaction to midazolam.

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“…In a previous study, we didn't find mGlu1R and mGlu5R alternation in caudal brain of Shank3+/ΔC mice in previous study, but mGlu5R decreased in cultured rat hippocampal and cortical neurons in vitro study by Verpelli et al [16,17]. The rat HPA axis is hypo-responsive in the first two postnatal weeks.…”

Section: Introductionmentioning

confidence: 88%

“…The mGlu1R and mGlu5R protein in the hippocampus were detected as previously described. 16 Briefly, after the tissues were homogenized and the protein was extracted, mGlu1R and mGlu5R were resolved by sodium dodecyl sulfate-polyacrylamide gel electrophoresis and electrotransferred to nitrocellulose membranes. The membranes were blocked in 0.1% Tween-20 in Tris-HCl-buffered saline (TBST) containing 5% nonfat milk for 1h at room temperature and then immunoblotted with primary antibodies(anti-mGlu1R: 1:1000, Cell-signaling, Danvers, MA; anti-mGlu5R: 1:5000, β-actin:1:100,000, Sigma-Aldrich, St. Louis, MO) in TBST buffer containing 5% nonfat milk overnight at 4℃.…”

Section: Corticosterone and Hippocampus Mglu1r And Mglu5r Determinationmentioning

confidence: 99%

Neurodevelopment is Particular Vulnerable in Neonatal Male Rats Subjected to Maternal Separation

Yang

Sun

2020

ANN

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Sensitivity to isoflurane anesthesia increases in autism spectrum disorder Shank3 +/∆c mutant mouse model

Cited by 15 publications

References 68 publications

Behavioral Phenotyping of an Improved Mouse Model of Phelan–McDermid Syndrome with a Complete Deletion of theShank3Gene

Behavioral Phenotyping of an Improved Mouse Model of Phelan–McDermid Syndrome with a Complete Deletion of theShank3Gene

Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone

Neurodevelopment is Particular Vulnerable in Neonatal Male Rats Subjected to Maternal Separation

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