Literature DB >> 33762729

Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome.

Nathan P Achilly1,2,3, Wei Wang1,4, Huda Y Zoghbi5,6,7,8,9,10,11.   

Abstract

Mutations in the X-linked gene MECP2 cause Rett syndrome, a progressive neurological disorder in which children develop normally for the first one or two years of life before experiencing profound motor and cognitive decline1-3. At present there are no effective treatments for Rett syndrome, but we hypothesized that using the period of normal development to strengthen motor and memory skills might confer some benefit. Here we find, using a mouse model of Rett syndrome, that intensive training beginning in the presymptomatic period dramatically improves the performance of specific motor and memory tasks, and significantly delays the onset of symptoms. These benefits are not observed when the training begins after symptom onset. Markers of neuronal activity and chemogenetic manipulation reveal that task-specific neurons that are repeatedly activated during training develop more dendritic arbors and have better neurophysiological responses than those in untrained animals, thereby enhancing their functionality and delaying symptom onset. These results provide a rationale for genetic screening of newborns for Rett syndrome, as presymptomatic intervention might mitigate symptoms or delay their onset. Similar strategies should be studied for other childhood neurological disorders.

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Year:  2021        PMID: 33762729      PMCID: PMC8093094          DOI: 10.1038/s41586-021-03369-7

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   69.504


  48 in total

1.  A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome.

Authors:  J Guy; B Hendrich; M Holmes; J E Martin; A Bird
Journal:  Nat Genet       Date:  2001-03       Impact factor: 38.330

2.  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Authors:  R E Amir; I B Van den Veyver; M Wan; C Q Tran; U Francke; H Y Zoghbi
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

3.  Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.

Authors:  Rodney C Samaco; Christopher M McGraw; Christopher S Ward; Yaling Sun; Jeffrey L Neul; Huda Y Zoghbi
Journal:  Hum Mol Genet       Date:  2012-10-01       Impact factor: 6.150

4.  Rett syndrome in Australia: a review of the epidemiology.

Authors:  Crystal L Laurvick; Nicholas de Klerk; Carol Bower; John Christodoulou; David Ravine; Carolyn Ellaway; Sarah Williamson; Helen Leonard
Journal:  J Pediatr       Date:  2006-03       Impact factor: 4.406

5.  Reversal of neurological defects in a mouse model of Rett syndrome.

Authors:  Jacky Guy; Jian Gan; Jim Selfridge; Stuart Cobb; Adrian Bird
Journal:  Science       Date:  2007-02-08       Impact factor: 47.728

6.  Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome.

Authors:  Saurabh K Garg; Daniel T Lioy; Hélène Cheval; James C McGann; John M Bissonnette; Matthew J Murtha; Kevin D Foust; Brian K Kaspar; Adrian Bird; Gail Mandel
Journal:  J Neurosci       Date:  2013-08-21       Impact factor: 6.167

7.  A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.

Authors:  B Hagberg; J Aicardi; K Dias; O Ramos
Journal:  Ann Neurol       Date:  1983-10       Impact factor: 10.422

Review 8.  Preclinical research in Rett syndrome: setting the foundation for translational success.

Authors:  David M Katz; Joanne E Berger-Sweeney; James H Eubanks; Monica J Justice; Jeffrey L Neul; Lucas Pozzo-Miller; Mary E Blue; Diana Christian; Jacqueline N Crawley; Maurizio Giustetto; Jacky Guy; C James Howell; Miriam Kron; Sacha B Nelson; Rodney C Samaco; Laura R Schaevitz; Coryse St Hillaire-Clarke; Juan L Young; Huda Y Zoghbi; Laura A Mamounas
Journal:  Dis Model Mech       Date:  2012-11       Impact factor: 5.758

9.  Developmental delay in Rett syndrome: data from the natural history study.

Authors:  Jeffrey L Neul; Jane B Lane; Hye-Seung Lee; Suzanne Geerts; Judy O Barrish; Fran Annese; Lauren McNair Baggett; Katherine Barnes; Steven A Skinner; Kathleen J Motil; Daniel G Glaze; Walter E Kaufmann; Alan K Percy
Journal:  J Neurodev Disord       Date:  2014-07-22       Impact factor: 4.025

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1.  Brain training.

Authors:  Sian Lewis
Journal:  Nat Rev Neurosci       Date:  2021-05       Impact factor: 34.870

Review 2.  Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants.

Authors:  Tomonori Hara; Yuji Owada; Atsushi Takata
Journal:  J Hum Genet       Date:  2022-05-26       Impact factor: 3.172

Review 3.  Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.

Authors:  Beverly L Davidson; Guangping Gao; Elizabeth Berry-Kravis; Allison M Bradbury; Carsten Bönnemann; Joseph D Buxbaum; Gavin R Corcoran; Steven J Gray; Heather Gray-Edwards; Robin J Kleiman; Adam J Shaywitz; Dan Wang; Huda Y Zoghbi; Terence R Flotte; Sitra Tauscher-Wisniewski; Cynthia J Tifft; Mustafa Sahin
Journal:  Mol Ther       Date:  2022-05-17       Impact factor: 12.910

Review 4.  Movement disorders in patients with Rett syndrome: A systematic review of evidence and associated clinical considerations.

Authors:  Jatinder Singh; Evamaria Lanzarini; Nardo Nardocci; Paramala Santosh
Journal:  Psychiatry Clin Neurosci       Date:  2021-10-21       Impact factor: 12.145

Review 5.  Chromatin Structure and Dynamics: Focus on Neuronal Differentiation and Pathological Implication.

Authors:  Sophie A Nothof; Frédérique Magdinier; Julien Van-Gils
Journal:  Genes (Basel)       Date:  2022-04-02       Impact factor: 4.141

6.  Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.

Authors:  Jian Zhou; Hamdan Hamdan; Hari Krishna Yalamanchili; Kaifang Pang; Amy E Pohodich; Joanna Lopez; Yingyao Shao; Juan A Oses-Prieto; Lifang Li; Wonho Kim; Mark A Durham; Sameer S Bajikar; Donna J Palmer; Philip Ng; Michelle L Thompson; E Martina Bebin; Amelie J Müller; Alma Kuechler; Antje Kampmeier; Tobias B Haack; Alma L Burlingame; Zhandong Liu; Matthew N Rasband; Huda Y Zoghbi
Journal:  Proc Natl Acad Sci U S A       Date:  2022-01-25       Impact factor: 12.779

Review 7.  Understanding autism spectrum disorders with animal models: applications, insights, and perspectives.

Authors:  Zhu Li; Yuan-Xiang Zhu; Li-Jun Gu; Ying Cheng
Journal:  Zool Res       Date:  2021-11-18

Review 8.  Pre-symptomatic intervention for autism spectrum disorder (ASD): defining a research agenda.

Authors:  Jason Wolff; Joseph Piven; Rebecca Grzadzinski; Dima Amso; Rebecca Landa; Linda Watson; Michael Guralnick; Lonnie Zwaigenbaum; Gedeon Deák; Annette Estes; Jessica Brian; Kevin Bath; Jed Elison; Leonard Abbeduto
Journal:  J Neurodev Disord       Date:  2021-10-15       Impact factor: 4.025

9.  Motor training improves coordination and anxiety in symptomatic Mecp2-null mice despite impaired functional connectivity within the motor circuit.

Authors:  Yuanlei Yue; Pan Xu; Zhichao Liu; Xiaoqian Sun; Juntao Su; Hongfei Du; Lingling Chen; Ryan T Ash; Stelios Smirnakis; Rahul Simha; Linda Kusner; Chen Zeng; Hui Lu
Journal:  Sci Adv       Date:  2021-10-22       Impact factor: 14.136

10.  Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism.

Authors:  Ryan Thomas Ash; Shelly Alexandra Buffington; Jiyoung Park; Bernhard Suter; Mauro Costa-Mattioli; Huda Yaya Zoghbi; Stelios Manolis Smirnakis
Journal:  eNeuro       Date:  2021-07-06
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