CAN CHANGES IN THE SETD5 AND SHANK3 GENES BE ASSOCIATED WITH A WORSE PROGNOSIS OF AUTISM?
CAN CHANGES (Português (Brasil))

Keywords

setd5, shank3, autism, prognosis

How to Cite

Lavínia Mota de Miranda, E. ., Karoline Lacerda Sousa Silva, A. ., Paula Vasconcelos Páuda, A. ., Emanuele Pereira Domingues, F. ., Orlandi Rosa, L. ., Marques Araújo, F. ., & Thalita dos Reis, S. . (2022). CAN CHANGES IN THE SETD5 AND SHANK3 GENES BE ASSOCIATED WITH A WORSE PROGNOSIS OF AUTISM?. Health and Society, 2(01). https://doi.org/10.51249/hs.v2i01.663

Abstract

Autism spectrum disorder (ASD) is a genetic neuropsychomotor disorder and environmental. In recent years, much has been discussed about the risk factors associated with ASD development. In this sense, environmental, genetic and epigenetic factors have been highlighted. Mutations in the SETD5 and SHANK3 genes were associated with TEA phenotypes, considering different signs and symptoms. The SETD5 gene is related to cognitive changes such as intellectual disability, speech/developmental delay. On the other hand, children with mutations in the SHANK3 gene express indicators associated with a more aggressive and epileptic conditions. The SETD5 and SHANK3 genes are intrinsically related to the ASD phenotype, however such genetic alterations associated with ASD are not well understood, therefore, research and studies on the subject should be carried out. this review compiles the results of the analysis of changes in such genes and assesses which of them represent a worse prognosis for a patient diagnosed with autism, in order to promote an early diagnosis, better quality of life and, perhaps, in the future, a more directed.

https://doi.org/10.51249/hs.v2i01.663
CAN CHANGES (Português (Brasil))

References

CHEN, Chia-Hsiang et al. Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder, Psychiatric Genetics: February 2017 - Volume 27 - Issue 1 - p 23-33. Disponível em: https://doi.org/10.1097/ypg.0000000000000151. Acesso em: 23 jan. 2022

COCHOY, Kolevzon A et al. Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID. Mol Autism. 2015 Apr 29;6:23. Disponível em: https://doi.org/10.1186/s13229-015-0020-5. Acesso em: 23 jan. 2022

CROWELL JA, Keluskar J, Gorecki A. Parenting behavior and the development of children with autism spectrum disorder. Compr Psychiatry. 2019 Apr; 90:21-29.Epub 2018 Nov 20. Disponível em: https://doi.org/10.1016/j.comppsych.2018.11.007. Acesso em: 23 jan. 2022

FERNANDES IR, Cruz ACP et al. Genetic variations on SETD5 underlying autistic conditions. Dev Neurobiol. 2018 May;78(5):500-518. Epub 2018 Mar 5. Disponível em: https://doi.org/10.1002/dneu.22584. Acesso em: 23 jan. 2022

FROMBONNE E. Fombonne E. Epidemiology of autistic disorder and other pervasive developmental disorders. J Clin Psychiatry. 2005;66 Suppl 10:3-8. Disponível em: Epidemiology of autistic disorder and other pervasive developmental disorders - PubMed (nih.gov). Acesso em: 24 jan. 2022

GROZEVA D. et al. De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. Am J Hum Genet. 2014 Apr 3;94(4):618-24. Epub 2014 Mar 27. Disponível em: https://doi.org/10.1016/j.ajhg.2014.03.006. Acesso em: 24 jan. 2022

KUECHLER A. et al.Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet. 2015 Jun;23(6):753-60. Epub 2014 Aug 20. Disponível em: https://doi.org/10.1038/ejhg.2014.165. Acesso em: 24 jan. 2022

MEGUID et al. Copy numbers variations of SHANK3 and related sensory profiles in Egyptian children with autism spectrum disorder. Research in Autism Spectrum Disorders 75 (2020) 101558. Disponível em: https://doi.org/10.1016/j.rasd.2020.101558. Acesso em: 24 jan. 2022

MEI et al. Adult restoration of Shank3 expression rescues selective autistic-like phenotypes. Nature 530, 481–484 (2016). Disponível em: https://doi.org/10.1038/nature16971. Acesso em: 24 jan. 2022

MIZUNO Y. et al. Structural brain abnormalities in children and adolescents with comorbid autism spectrum disorder and attention-deficit/hyperactivity disorder. Transl Psychiatry 9, 332 (2019). Disponível em: https://doi.org/10.1038/s41398-019-0679-z. Acesso em: 24 jan. 2022

MOORE et al. Setd5 Haploinsufficiency Alters Neuronal Network Connectivity and Leads to Autistic-like Behaviors in Mice. UC San Diego. Disponível em: https://escholarship.org/uc/item/640554n1. Acesso em: 24 jan. 2022

NAKAGAWA et al. The Autism-Related Protein SETD5 Controls Neural Cell Proliferation through Epigenetic Regulation of rDNA Expression. iScience. 2020 Apr 24;23(4):101030. Epub 2020 Apr 6. Disponível em: https://doi.org/10.1016/j.isci.2020.101030. Acesso em: 24 jan. 2022

ROCHA C. C. et al. The profile of the child population with suspected diagnosis of autism spectrum disorder attended by a Secialez Rehabilitation Center in a southem Brazilian city. Physis 29 (04) 25 Nov 2019. Disponível em: https://doi.org/10.1590/S0103-73312019290412. Acesso em: 24 jan. 2022

SATTERSTROM F.K. et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020 Feb 6;180(3):568-584.e23. Epub 2020 Jan 23. Disponível em: https://doi.org/10.1016/j.cell.2019.12.036. Acesso em: 24 jan. 2022

SESSA et al. SETD5 Regulates Chromatin Methylation State and Preserves Global Transcriptional Fidelity during Brain Development and Neuronal Wiring. Neuron. 2019 Oct 23;104(2):271-289.e13. Epub 2019 Sep 9. Disponível em: https://doi.org/10.1016/j.neuron.2019.07.013. Acesso em: 24 jan. 2022

STYLES M. et al. Risk factors, diagnosis, prognosis and treatment of autism. Front Biosci (Landmark Ed). 2020 Jun 1;25:1682-1717. Disponível em: https://doi.org/10.2741/4873. Acesso em: 24 jan. 2022

TATAVARTY et al. Autism-Associated Shank3 Is Essential for Homeostatic Compensation in Rodent V1, Neuron, Volume 106, Issue 5, 2020, Pages 769-777.e4. Disponível em: https://doi.org/10.1016/j.neuron.2020.02.033. Acesso em: 24 jan. 2022

TOROSSIAN et al. Increased rates of cerebral protein synthesis in Shank3 knockout mice: Implications for a link between synaptic protein deficit and dysregulated protein synthesis in autism spectrum disorder/intellectual disability. Neurobiol Dis. 2021 Jan;148:105213. Epub 2020 Dec 1. Disponível em: https://doi.org/10.1016/j.nbd.2020.105213. Acesso em: 24 jan. 2022

YI et al. Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons. Science. 2016 May 6;352(6286):Epub 2016 Mar 10. Disponível em: https://doi.org/10.1126/science.aaf2669. Acesso em: 24 jan. 2022

ZHU et al. Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability. Am J Med Genet A. 2018 Apr;176(4):973-979. Epub 2018 Feb 9. Disponível em: https://doi.org/10.1002/ajmg.a.38622. Acesso em: 24 jan. 2022

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