Neurobiology of ARID1B Haploinsufficiency Related to Neurodevelopmental and Psychiatric Disorders

Overview

Journal Mol Psychiatry

Specialties Molecular Biology
Psychiatry

Date 2021 Mar 9

PMID 33686214

Citations 18

Authors

Jeffrey J Moffat

Amanda L Smith

Eui-Man Jung

Minhan Ka

Woo-Yang Kim

Affiliations

Soon will be listed here.

Abstract

ARID1B haploinsufficiency is a frequent cause of intellectual disability (ID) and autism spectrum disorder (ASD), and also leads to emotional disturbances. In this review, we examine past and present clinical and preclinical research into the neurobiological function of ARID1B. The presentation of ARID1B-related disorders (ARID1B-RD) is highly heterogeneous, including varying degrees of ID, ASD, and physical features. Recent research includes the development of suitable clinical readiness assessments for the treatment of ARID1B-RD, as well as similar neurodevelopmental disorders. Recently developed mouse models of Arid1b haploinsufficiency successfully mirror many of the behavioral phenotypes of ASD and ID. These animal models have helped to solidify the molecular mechanisms by which ARID1B regulates brain development and function, including epigenetic regulation of the Pvalb gene and promotion of Wnt/β-catenin signaling in neural progenitors in the ventral telencephalon. Finally, preclinical studies have identified the use of a positive allosteric modulator of the GABA receptor as an effective treatment for some Arid1b haploinsufficiency-related behavioral phenotypes, and there is potential for the refinement of this therapy in order to translate it into clinical use.

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References

Backx L, Seuntjens E, Devriendt K, Vermeesch J, Van Esch H . A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum. Cytogenet Genome Res. 2010; 132(3):135-43. DOI: 10.1159/000321577. View

Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson C . Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clin Genet. 2011; 82(3):248-55. PMC: 3464360. DOI: 10.1111/j.1399-0004.2011.01755.x. View

Hoyer J, Ekici A, Endele S, Popp B, Zweier C, Wiesener A . Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet. 2012; 90(3):565-72. PMC: 3309205. DOI: 10.1016/j.ajhg.2012.02.007. View

Santen G, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M . Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet. 2012; 44(4):379-80. DOI: 10.1038/ng.2217. View

Sim J, White S, Fitzpatrick E, Wilson G, Gillies G, Pope K . Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. Orphanet J Rare Dis. 2014; 9:43. PMC: 4022252. DOI: 10.1186/1750-1172-9-43. View

Vasileiou G, Ekici A, Uebe S, Zweier C, Hoyer J, Engels H . Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling. Am J Hum Genet. 2015; 97(3):445-56. PMC: 4564991. DOI: 10.1016/j.ajhg.2015.08.002. View

Ka M, Chopra D, Dravid S, Kim W . Essential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal Neurons. J Neurosci. 2016; 36(9):2723-42. PMC: 4879215. DOI: 10.1523/JNEUROSCI.2321-15.2016. View

Jung E, Moffat J, Liu J, Dravid S, Gurumurthy C, Kim W . Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior. Nat Neurosci. 2017; 20(12):1694-1707. PMC: 5726525. DOI: 10.1038/s41593-017-0013-0. View

10.

Yu D, Jiao X, Cao T, Huang F . Serum miRNA expression profiling reveals miR-486-3p may play a significant role in the development of autism by targeting ARID1B. Neuroreport. 2018; 29(17):1431-1436. DOI: 10.1097/WNR.0000000000001107. View

11.

Demily C, Duwime C, Lopez C, Hemimou C, Poisson A, Plasse J . Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome. Psychiatr Genet. 2019; 29(6):237-242. DOI: 10.1097/YPG.0000000000000225. View

12.

Gorokhova S, Mortreux J, Afenjar A, Attie-Bitach T, Blanluet M, Cormier-Daire V . Significant contribution of intragenic deletions to ARID1B mutation spectrum. Genet Med. 2019; 21(11):2654-2655. DOI: 10.1038/s41436-019-0546-6. View

13.

Van der Sluijs P, Jansen S, Vergano S, Adachi-Fukuda M, Alanay Y, Alkindy A . The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2018; 21(6):1295-1307. PMC: 6752273. DOI: 10.1038/s41436-018-0330-z. View

14.

Boerstler T, Wend H, Krumbiegel M, Kavyanifar A, Reis A, Lie D . CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome. Stem Cell Res. 2020; 47:101889. DOI: 10.1016/j.scr.2020.101889. View

15.

Liu X, Hu G, Ye J, Ye B, Shen N, Tao Y . De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling. Hum Mutat. 2020; 41(5):1012-1024. DOI: 10.1002/humu.23990. View

16.

Nie Z, Yan Z, Chen E, Sechi S, Ling C, Zhou S . Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner. Mol Cell Biol. 2003; 23(8):2942-52. PMC: 152562. DOI: 10.1128/MCB.23.8.2942-2952.2003. View

17.

Wang X, Nagl N, Wilsker D, Van Scoy M, Pacchione S, Yaciuk P . Two related ARID family proteins are alternative subunits of human SWI/SNF complexes. Biochem J. 2004; 383(Pt 2):319-25. PMC: 1134073. DOI: 10.1042/BJ20040524. View

18.

Berry-Kravis E, Hagerman R, Visootsak J, Budimirovic D, Kaufmann W, Cherubini M . Arbaclofen in fragile X syndrome: results of phase 3 trials. J Neurodev Disord. 2017; 9:3. PMC: 5467054. DOI: 10.1186/s11689-016-9181-6. View

19.

Kapp S, Gillespie-Lynch K, Sherman L, Hutman T . Deficit, difference, or both? Autism and neurodiversity. Dev Psychol. 2012; 49(1):59-71. DOI: 10.1037/a0028353. View

20.

Pantazakos T . Treatment for whom? Towards a phenomenological resolution of controversy within autism treatment. Stud Hist Philos Biol Biomed Sci. 2019; 77:101176. DOI: 10.1016/j.shpsc.2019.04.001. View

21.

Eady N, Courtenay K, Strydom A . Pharmacological management of behavioral and psychiatric symptoms in older adults with intellectual disability. Drugs Aging. 2015; 32(2):95-102. DOI: 10.1007/s40266-014-0236-7. View