Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data DOI Creative Commons
Olivia J. Veatch, Diego R. Mazzotti, Robert T. Schultz

et al.

Journal of Neurodevelopmental Disorders, Journal Year: 2022, Volume and Issue: 14(1)

Published: June 24, 2022

Numerous genes are implicated in autism spectrum disorder (ASD). ASD encompasses a wide-range and severity of symptoms co-occurring conditions; however, the details how genetic variation contributes to phenotypic differences unclear. This creates challenge for translating evidence into clinically useful knowledge. Sleep disturbances particularly prevalent conditions ASD, genetics may inform treatment. Identifying convergent mechanisms with dysfunction that connect sleep biology could help identify better treatments these individuals. To influence risk disturbances, we analyzed whole exome sequence data from individuals Simons Simplex Collection (n = 2380). We predicted protein damaging variants (PDVs) currently either or duration typically developing children. network ASD-related proteins direct interaction duration-related encoded by PDVs. Overrepresentation analyses Gene Ontology-defined biological processes were conducted on resulting gene set. calculated likelihood top overrepresented process. then tested if scores reflecting process associated parent-reported duration. There 29 PDVs dataset where was reported literature be both A 108 candidate identified. The mechanism PDV-containing encode most cerebral cortex development (GO:0,021,987). Scores this durations; largest effects observed adolescents (p 4.65 × 10-3). Our bioinformatic-driven approach detected enriched encoding protein-protein linking products accumulation potentially as parents. Specifically, impacting affect disrupting homeostasis which is evidenced regulated brain region. Future functional assessments objective measurements provide basis more informed treatment problems

Language: Английский

Pleiotropic effects of a high confidence Autism Spectrum Disorder gene, arid1b, on zebrafish sleep DOI Creative Commons
Fusun Doldur-Balli, Amber Zimmerman, Brendan T Keenan

et al.

Neurobiology of Sleep and Circadian Rhythms, Journal Year: 2023, Volume and Issue: 14, P. 100096 - 100096

Published: May 1, 2023

Sleep fulfills critical functions in neurodevelopment, such as promoting synaptic plasticity, neuronal wiring, and brain connectivity which are phenomena Autism Spectrum Disorder (ASD) pathophysiology. disturbance, specifically insomnia, accompanies ASD is associated with more severe core symptoms (e.g., social impairment). It possible that focusing on identifying effective ways to treat sleep problems can help alleviate other ASD-related symptoms. A body of evidence indicates shared mechanisms neurobiological substrates between investigation these may inform therapeutic effects improving at both behavioral molecular levels. In this study, we tested if behavior were different a zebrafish model the arid1b gene mutated compared controls. This was selected for study expert curations conducted Simons Foundation Research Institute (SFARI) Gene database define it 'high confidence' (i.e., clearly implicated) encoding chromatin remodeling protein. Homozygous mutants displayed increased arousability light their heterozygous wild type counterparts, based testing mechano-acoustic stimulus presenting vibration frequencies increasing intensity detect depth. addition, decreased preference observed homozygous mutant zebrafish. The phenotypes reported our line findings from mouse models human studies demonstrate utility vertebrate system high throughput phenotyping changes relevant ASD. Furthermore, importance including assessments arousal threshold when studying using vivo models.

Language: Английский

Citations

6
Neurofibromin 1 regulates early developmental sleep in Drosophila DOI Creative Commons
Jaclyn Durkin, Amy R. Poe, Samuel J. Belfer

et al.

Neurobiology of Sleep and Circadian Rhythms, Journal Year: 2023, Volume and Issue: 15, P. 100101 - 100101

Published: Aug. 9, 2023

Sleep disturbances are common in neurodevelopmental disorders, but knowledge of molecular factors that govern sleep young animals is lacking. Evidence across species, including

Language: Английский

Citations

2
The Relationship of Cryptocurrencies and the Stock Market DOI Creative Commons

Boyu Shi

Advances in Economics Management and Political Sciences, Journal Year: 2023, Volume and Issue: 26(1), P. 80 - 85

Published: Sept. 12, 2023

In today's world, with the internet and finance closely integrated, global-ization of cryptocurrency has deepened, prompting people to pay more atten-tion impact on entire financial market. This pa-per provides a comprehensive review relevant literature from five aspects: development cryptocurrency, price changes, cryptocur-rency stock market, banking in-dustry, currency commodity characteristics cryptocurrency. The author also compares curves (in USD) S&P 500, ETH, BTC March 21, 2022, 2023, hopes gain in-sights into relationship between stocks cryptocurrencies. Our re-search shows that emergence had significant im-pact particularly in industry. Although added vitality market increased investment options, instability brought risks investors. As continues ex-pand, policymakers investors need understand its potential traditional instruments broader economy.

Language: Английский

Citations

2
Analysis of sleep problem in children aged 1–3 years with autism spectrum disorder in Zhejiang province, China DOI Creative Commons
Dan Yao, Shasha Wang, Fangfang Li

et al.

Frontiers in Psychiatry, Journal Year: 2022, Volume and Issue: 13

Published: Aug. 30, 2022

Background High prevalence of sleep problems have been founded in children with Autism Spectrum Disorder (ASD), rates ranging from 50 to 80%. We aimed study the status and occurrence autism spectrum disorder (ASD) aged 1–3 years, provide reference for guiding early comprehensive intervention ASD perspective sleep. Methods From January 1 December 31, 2021, 74 who met diagnostic criteria “Diagnostic Statistical Manual Mental Disorders-5 (DSM-V)” served as case group while 84 typically-developing same sex age control group. An original Children's Sleep Habit Questionnaire was adopted compare two groups conduct statistical analysis on related factors. Results The incidence (78.4%) significantly higher than that (34.5%) ( P < 0.001). Compared group, had later bedtime 0.05) less duration 0.05), required longer time fall asleep 0.001) could autonomously lower needed parental help 0.05). In screen exposure time, Conclusions years is also high, mainly manifested late bedtime, difficulty falling asleep, frequent night awakenings duration. Both patterns can impact their children, it necessary pay full heed take timely measures order improve quality life families.

Language: Английский

Citations

3
The predictors of sleep quality in mothers of children with autism spectrum disorders in the west of Iran: A path analysis DOI Creative Commons
Ensiyeh Jenabi, Azam Maleki, Erfan Ayubi

et al.

Heliyon, Journal Year: 2024, Volume and Issue: 11(1), P. e41136 - e41136

Published: Dec. 11, 2024

Language: Английский

Citations

0
Stem cell-specific ecdysone signaling regulates the development and function of aDrosophilasleep homeostat DOI Creative Commons
Adil R. Wani, Budhaditya Chowdhury,

Jenny Luong

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2023, Volume and Issue: unknown

Published: Oct. 2, 2023

Abstract Complex behaviors arise from neural circuits that are assembled diverse cell types. Sleep is a conserved and essential behavior, yet little known regarding how the nervous system generates neuron types of sleep-wake circuit. Here, we focus on specification Drosophila sleep-promoting neurons—long-field tangential input neurons project to dorsal layers fan-shaped body neuropil in central complex (CX). We use lineage analysis genetic birth dating identify two bilateral Type II stem cells generate these (dFB) neurons. show adult dFB express Ecdysone-induced protein E93, loss Ecdysone signaling or E93 NSCs results misspecification Finally, knockdown affects sleep behavior. Our provide insight into extrinsic hormonal acts neuronal diversity required for These findings suggest some disorders might derive defects cell-specific temporal neurodevelopmental programs.

Language: Английский

Citations

1
Sleep and Activity Patterns in Autism Spectrum Disorder DOI Open Access

J. Dylan Weissenkampen,

Arpita Ghorai,

Maria Fasolino

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: May 5, 2024

Abstract Background Autism spectrum disorder (ASD) is a highly heritable and heterogeneous neurodevelopmental characterized by impaired social interactions, repetitive behaviors, wide range of comorbidities. Between 44-83% autistic individuals report sleep disturbances, which may share an underlying basis with ASD. Methods We recruited 382 ASD 223 their family members to obtain quantitative ASD-related traits wearable device-based accelerometer data spanning three consecutive weeks. An unbiased approach identifying associated was achieved applying the elastic net machine learning algorithm five-fold cross-validation on 6,878 days data. The relationship between physical activity examined through linear mixed-effects regressions using each night Results This analysis yielded 59 out 242 actimetry measures status in training set, were validated test set (AUC: 0.777). For several these (e.g. total light activity), day-to-day variability, addition mean, Individuals found have stronger correlation sleep, where less decreased more significantly than that non-ASD relatives. Conclusions average duration sleep/physical variation strongly predict status. Physical correlated quality, traits, regularity, having correlations. Interventional studies are warranted investigate whether improvements both increased improve core symptoms

Language: Английский

Citations

0
Measuring Sleep and Activity Patterns in Adult Zebrafish DOI Creative Commons
Fusun Doldur-Balli, Amber Zimmerman,

Christoph Seiler

et al.

BIO-PROTOCOL, Journal Year: 2024, Volume and Issue: 14(1347)

Published: Jan. 1, 2024

Sleep is an essential behavior that still poorly understood. abnormalities accompany a variety of psychiatric and neurological disorders, sleep can serve as modifiable in the treatment these disorders. Zebrafish (

Language: Английский

Citations

0
The Genetics of Sleep in Zebrafish DOI
Amber Zimmerman

Springer eBooks, Journal Year: 2024, Volume and Issue: unknown, P. 99 - 132

Published: Jan. 1, 2024

Language: Английский

Citations

0
Genetics of Insomnia DOI
Rackeb Tesfaye, Philip Gehrman

Springer eBooks, Journal Year: 2024, Volume and Issue: unknown, P. 247 - 271

Published: Jan. 1, 2024

Language: Английский

Citations

0