C2H2-Type Zinc Finger Proteins in Brain Development, Neurodevelopmental, and Other Neuropsychiatric Disorders: Systematic Literature-Based Analysis DOI Creative Commons

Njoud Al-Naama,

Rafah Mackeh, Tomoshige Kino

et al.

Frontiers in Neurology, Journal Year: 2020, Volume and Issue: 11

Published: Feb. 14, 2020

Neurodevelopmental disorders (NDDs) are multifaceted pathologic conditions manifested with intellectual disability, autistic features, psychiatric problems, motor dysfunction, and/or genetic/chromosomal abnormalities. They associated skewed neurogenesis and brain development, in part through dysfunction of the neural stem cells (NSCs) where abnormal transcriptional regulation on key genes play significant roles. Recent accumulated evidence highlights C2H2-type zinc finger proteins (C2H2-ZNFs), largest transcription factor family humans, as important targets for processes NDDs. In this review, we identified their accumulation (74 C2H2-ZNFs: ~10% all human member proteins) physiology pathology. Specifically, discuss physiologic contribution to particularly focusing actions NSCs. We then explain implications various forms NDDs, such morphological abnormalities, disabilities, disorders. found an tendency that poly-ZNFs KRAB-ZNFs tend be involved diseases compromise gross structure human-specific higher-order functions, respectively. This may consistent characteristic appearance course species evolution corresponding these activities.

Language: Английский

Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation DOI Open Access

Holly Hodges,

Casey Fealko, Neelkamal Soares

et al.

Translational Pediatrics, Journal Year: 2020, Volume and Issue: 9(S1), P. S55 - S65

Published: Feb. 1, 2020

Abstract: Autism spectrum disorder (ASD) is a neurodevelopmental characterized by deficits in social communication and the presence of restricted interests repetitive behaviors. There have been recent concerns about increased prevalence, this article seeks to elaborate on factors that may influence prevalence rates, including changes diagnostic criteria. The authors review evidence ASD neurobiological influenced both genetic environmental affecting developing brain, enumerate correlate with risk. Finally, describes how clinical evaluation begins developmental screening, followed referral for definitive diagnosis, provides guidance screening comorbid conditions.

Language: Английский

Citations

713
Autism genetics: opportunities and challenges for clinical translation DOI
Jacob Vorstman, Jeremy Parr, Daniel Moreno‐De‐Luca

et al.

Nature Reviews Genetics, Journal Year: 2017, Volume and Issue: 18(6), P. 362 - 376

Published: March 6, 2017

Language: Английский

Citations

415
Early-Life Gene Expression in Neurons Modulates Lasting Epigenetic States DOI Creative Commons
Hume Stroud,

Susan C. Su,

Siniša Hrvatin

et al.

Cell, Journal Year: 2017, Volume and Issue: 171(5), P. 1151 - 1164.e16

Published: Oct. 19, 2017

Language: Английский

Citations

199
Dendritic Spine Plasticity: Function and Mechanisms DOI Creative Commons
Karen Runge, Carlos Cardoso, Antoine de Chevigny

et al.

Frontiers in Synaptic Neuroscience, Journal Year: 2020, Volume and Issue: 12

Published: Aug. 28, 2020

Dendritic spines are small protrusions studding neuronal dendrites, first described in 1888 by Ramón y Cajal using his famous Golgi stainings. Around fifty years later the advance of electron microscopy confirmed Cajal's intuition that constitute postsynaptic site most excitatory synapses mammalian brain. The finding spine density decreases between young and adult ages fixed tissues suggested dynamic. It is only a decade ago two-photon has unambiguously proven dynamic nature spines, through repeated imaging single live animals. Spine dynamics comprise formation, disappearance stabilization modulated activity developmental age. Here we review several emerging concepts field start to answer following key questions: What external signals triggering molecular mechanisms involved? is, return, role circuit rewiring, learning neuropsychiatric disorders?

Language: Английский

Citations

178
The Cerebellar Involvement in Autism Spectrum Disorders: From the Social Brain to Mouse Models DOI Open Access
Lisa Mapelli, Teresa Soda, Egidio D’Angelo

et al.

International Journal of Molecular Sciences, Journal Year: 2022, Volume and Issue: 23(7), P. 3894 - 3894

Published: March 31, 2022

Autism spectrum disorders (ASD) are pervasive neurodevelopmental that include a variety of forms and clinical phenotypes. This heterogeneity complicates the experimental approaches to ASD etiology pathophysiology. To date, unifying theory these diseases is still missing. Nevertheless, intense work researchers clinicians in last decades has identified some hallmarks primary brain areas involved. Not surprisingly, part so-called “social brain”, those strictly connected them, were found be crucial, such as prefrontal cortex, amygdala, hippocampus, limbic system, dopaminergic pathways. With recent acknowledgment cerebellar contribution cognitive functions social brain, its involvement become unmistakable, though extent elucidated. In most cases, significant advances made possible by technological developments structural/functional assessment human using mouse models ASD. Mouse an invaluable tool get insights into molecular cellular counterparts disease, acting on specific genetic background generating ASD-like phenotype. Given multifaceted nature related studies, it often difficult navigate literature limit huge content questions. review fulfills need for organized, clear, state-of-the-art perspective ASD, from connections (which sites impairments) use monogenic models.

Language: Английский

Citations

78
Autism spectrum disorder: pathogenesis, biomarker, and intervention therapy DOI Creative Commons
Hongbin Zhuang, Zhiyuan Liang,

Guanwei Ma

et al.

MedComm, Journal Year: 2024, Volume and Issue: 5(3)

Published: March 1, 2024

Abstract Autism spectrum disorder (ASD) has become a common neurodevelopmental disorder. The heterogeneity of ASD poses great challenges for its research and clinical translation. On the basis reviewing ASD, this review systematically summarized current status progress pathogenesis, diagnostic markers, interventions ASD. We provided an overview molecular mechanisms identified by multi‐omics studies convergent mechanism in different genetic backgrounds. comorbidities, associated with important physiological metabolic abnormalities (i.e., inflammation, immunity, oxidative stress, mitochondrial dysfunction), gut microbial were reviewed. non‐targeted omics targeting markers also Moreover, we methods behavioral educational interventions, intervention related to technological devices, on medical potential drug targets. This highlighted application high‐throughput emphasized importance seeking homogeneity from exploring convergence disease mechanisms, biomarkers, approaches, proposes that taking into account individuality commonality may be key achieve accurate diagnosis treatment

Language: Английский

Citations

20
Modeling Neurological Diseases With Human Brain Organoids DOI Creative Commons
Hansen Wang

Frontiers in Synaptic Neuroscience, Journal Year: 2018, Volume and Issue: 10

Published: June 8, 2018

The complexity and delicacy of human brain make it challenging to recapitulate its development, function disorders. Brain organoids derived from pluripotent stem cells (PSCs) provide a new tool model both normal pathological brain, greatly enhance our ability study biology diseases. Currently, are increasingly used in modeling neurological disorders relative therapeutic discovery. This review article focuses on recent advances organoid system application disease modeling. It also discusses the limitations future perspective

Language: Английский

Citations

161
Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing DOI
Alberto Parras, Héctor Anta, María Santos‐Galindo

et al.

Nature, Journal Year: 2018, Volume and Issue: 560(7719), P. 441 - 446

Published: Aug. 1, 2018

Language: Английский

Citations

147
Genetic Advances in Autism DOI Creative Commons
Anita Thapar, Michael Rutter

Journal of Autism and Developmental Disorders, Journal Year: 2020, Volume and Issue: 51(12), P. 4321 - 4332

Published: Sept. 17, 2020

Abstract In the last 40 years, there has been a huge increase in autism genetics research and rapidly growing number of discoveries. We now know is one most highly heritable disorders with negligible shared environmental contributions. Recent discoveries also show that rare variants large effect size as well small common gene all contribute to risk. These challenge traditional diagnostic boundaries highlight heterogeneity autism. this review, we consider some key findings are shaping current understanding what these mean for clinicians.

Language: Английский

Citations

124
Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder DOI Creative Commons
Nenad Šestan, Matthew W. State

Neuron, Journal Year: 2018, Volume and Issue: 100(2), P. 406 - 423

Published: Oct. 1, 2018

Language: Английский

Citations

123