scholarly journals Rett Syndrome: A Model of Genetic Neurodevelopmental Disorders

10.5772/53075 ◽  
2013 ◽  
Author(s):  
Christopher A. ◽  
Jane Lane ◽  
Lucas Pozzo-Miller ◽  
Alan K.
Keyword(s):  
Rett Syndrome ◽  
Neurodevelopmental Disorders

scholarly journals Rett Syndrome and Other Neurodevelopmental Disorders Share Common Changes in Gut Microbial Community: A Descriptive Review

2019 ◽  
Vol 20 (17) ◽  
pp. 4160 ◽  
Author(s):  
Elisa Borghi ◽  
Aglaia Vignoli
Keyword(s):  
Microbial Community ◽  
Gut Microbiota ◽  
Rett Syndrome ◽  
Neurodevelopmental Disorders ◽  
Short Chain Fatty Acids ◽  
Dynamic Effects ◽  
Common Pathway ◽  
Gut Microbial Community ◽  
Host Metabolism

In this narrative review, we summarize recent pieces of evidence of the role of microbiota alterations in Rett syndrome (RTT). Neurological problems are prominent features of the syndrome, but the pathogenic mechanisms modulating its severity are still poorly understood. Gut microbiota was recently demonstrated to be altered both in animal models and humans with different neurodevelopmental disorders and/or epilepsy. By investigating gut microbiota in RTT cohorts, a less rich microbial community was identified which was associated with alterations of fecal microbial short-chain fatty acids. These changes were positively correlated with severe clinical outcomes. Indeed, microbial metabolites can play a crucial role both locally and systemically, having dynamic effects on host metabolism and gene expression in many organs. Similar alterations were found in patients with autism and down syndrome as well, suggesting a potential common pathway of gut microbiota involvement in neurodevelopmental disorders.

Rett Syndrome: Model of Neurodevelopmental Disorders

2005 ◽  
Vol 20 (8) ◽  
pp. 718-721 ◽  
Author(s):  
A. K. Percy ◽  
J. B. Lane
Keyword(s):  
Rett Syndrome ◽  
Neurodevelopmental Disorders

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)

2003 ◽  
Vol 7 (1) ◽  
pp. 5-12 ◽  
Author(s):  
Ute Moog ◽  
Eric EJ Smeets ◽  
Kees EP van Roozendaal ◽  
Sam Schoenmakers ◽  
Jos Herbergs ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Neurodevelopmental Disorders

scholarly journals DNMT3A haploinsufficiency results in behavioral deficits and global epigenomic dysregulation shared across neurodevelopmental disorders

2020 ◽  
Author(s):  
Diana L. Christian ◽  
Dennis Y. Wu ◽  
Jenna R. Martin ◽  
J. Russell Moore ◽  
Yiran R. Liu ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Rett Syndrome ◽  
Neurodevelopmental Disorders ◽  
Dna Methyltransferase ◽  
Behavioral Alterations ◽  
Protein Activity ◽  
Neurodevelopmental Disease ◽  
Convergence Point ◽  
Nervous System Function ◽  
Syndrome Protein

SummaryMutations in DNA methyltransferase 3A (DNMT3A) have been detected in autism and related disorders, but how these mutations disrupt nervous system function is unknown. Here we define the effects of neurodevelopmental disease-associated DNMT3A mutations. We show that diverse mutations affect different aspects of protein activity yet lead to shared deficiencies in neuronal DNA methylation. Heterozygous DNMT3A knockout mice mimicking DNMT3A disruption in disease display growth and behavioral alterations consistent with human phenotypes. Strikingly, in these mice we detect global disruption of neuron-enriched non-CG DNA methylation, a binding site for the Rett syndrome protein MeCP2. Loss of this methylation leads to enhancer and gene dysregulation that overlaps with models of Rett syndrome and autism. These findings define effects of DNMT3A haploinsufficiency in the brain and uncover disruption of the non-CG methylation pathway as a convergence point across neurodevelopmental disorders.

scholarly journals Rett syndrome: a sex-biased neurodevelopmental disorder

2017 ◽  
Vol 39 (1) ◽  
pp. 30-33 ◽  
Author(s):  
Eyleen Goh
Keyword(s):  
Rett Syndrome ◽  
Neurodevelopmental Disorders ◽  
Expression Profiles ◽  
Neurodevelopmental Disorder ◽  
Gene Expression Profiles ◽  
Autism Spectrum ◽  
Related Disorder ◽  
Genetic Sequences ◽  
Biochemical Profiles ◽  
Males And Females

Decades of research on neurodevelopmental disorders have focused on genetics. Although there has been significant progress, the aetiology of many neurodevelopmental disorders still remains unknown. Deciphering genetic sequences of the whole genome can identify disease-causing mutations in individuals. However, the same genetic sequences do not necessarily result in similar gene expression profiles, or the consequential biochemical profiles in every cell and in all individuals. In particular, studies have shown that differential biochemical profiles in males and females, possibly play a role in neurodevelopmental disorders being biased towards a different gender. Interestingly, autism spectrum disorder (ASD) is biased towards boys although it is not an X-linked disorder, whereas Rett syndrome, an ASD-related disorder where the disease-causing gene is located on the X-chromosome, is found almost exclusively in girls.

Rett Syndrome: Model of Neurodevelopmental Disorders

2005 ◽  
Vol 20 (9) ◽  
pp. 718-721 ◽  
Author(s):  
Alan K. Percy ◽  
Jane B. Lane
Keyword(s):  
Rett Syndrome ◽  
Neurodevelopmental Disorders

En route to disentangle the impact and neurobiological substrates of early vocalizations: Learning from Rett syndrome

2014 ◽  
Vol 37 (6) ◽  
pp. 562-563 ◽  
Author(s):  
Peter B. Marschik ◽  
Walter E. Kaufmann ◽  
Sven Bölte ◽  
Jeff Sigafoos ◽  
Christa Einspieler
Keyword(s):  
Rett Syndrome ◽  
Acoustic Communication ◽  
Neurodevelopmental Disorders ◽  
Central Pattern Generators ◽  
Pattern Generator ◽  
Neurological Development ◽  
Neurobiological Substrates ◽  
Pattern Generators ◽  
The Impact

AbstractResearch on acoustic communication and its underlying neurobiological substrates has led to new insights about the functioning of central pattern generators (CPGs). CPG-related atypicalities may point to brainstem irregularities rather than cortical malfunctions for early vocalizations/babbling. The “vocal pattern generator,” together with other CPGs, seems to have great potential in disentangling neurodevelopmental disorders and potentially predict neurological development.

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