Review
Genetics & Heredity
Mohiuddin Mohiuddin, R. Frank Kooy, Christopher E. Pearson
Summary: Mosaicism, the existence of genetically distinct populations of cells, is a significant cause of genetic diseases. Neurodevelopmental or neuropsychiatric disorders, such as autism, often arise from de novo mutations that are not present in either parent. The timing and mode of mutations can affect the burden and distribution of mutations.
FRONTIERS IN GENETICS
(2022)
Article
Medical Laboratory Technology
Shimeng Chen, Xiaolu Deng, Juan Xiong, Fang He, Lifen Yang, Baiyu Chen, Chen Chen, Ciliu Zhang, Li Yang, Jing Peng, Fei Yin
Summary: This study explored the clinical and genetic characteristics of Chinese patients with de novo DEAF1 variants. The patients exhibited intellectual disability, language delay, and behavior problems. Interestingly, the DEAF1-related epilepsy in Eastern-Asian individuals was found to be completely treatable. The study expanded the knowledge of DEAF1-related neurodevelopmental disorder and the de novo variant database of DEAF1.
CLINICA CHIMICA ACTA
(2021)
Article
Biochemistry & Molecular Biology
Eugenio Lopez-Cortegano, Rory J. Craig, Jobran Chebib, Toby Samuels, Andrew D. Morgan, Susanne A. Kraemer, Katharina B. Boendel, Rob W. Ness, Nick Colegrave, Peter D. Keightley
Summary: De novo mutations play a crucial role in evolution by providing genetic variation, but studying them is challenging and often limited to model species, leading to a restricted understanding of mutation rate evolution among closely related species. Through a mutation accumulation experiment and comparative analysis between Chlamydomonas incerta and Chlamydomonas reinhardtii, researchers found variability in the mutation rate and differing mutation spectra, indicating similarities in genomic factors influencing mutation rate but a greater divergence in mutation spectra between the two species.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Multidisciplinary Sciences
Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun Helen Chen, Kathryn J. Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti-Pierri, Benedicte Gerard, Emmanuelle Ginglinger, Julie Richer, Hugh McMillan, Alexandre White-Brown, Kendra Hoekzema, Raphael A. Bernier, Evangeline C. Kurtz-Nelson, Rachel K. Earl, Claartje Meddens, Marielle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G. Monaghan, Michelle M. Morrow, Evan E. Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo
Summary: This study reports a newly identified neurodevelopmental disorder and suggests the importance of stress granules (SGs) in its pathology. By studying mice and analyzing data from a large number of patients, the researchers found that genetic variants in genes related to SGs were associated with the disorder. These findings provide significant insights into the underlying mechanisms of neurodevelopmental disorders.
Review
Nutrition & Dietetics
Priscila Kelly da Silva Bezerra do Nascimento, David Franciole Oliveira Silva, Tassia Louise Sousa Augusto de Morais, Adriana Augusto de Rezende
Summary: This review aimed to summarize scientific evidence on the relationship between zinc status and Autism Spectrum Disorder (ASD) in children and adolescents. A total of 52 studies were included, with 19 studies showing lower zinc concentrations in the ASD group. However, overall, there was no significant difference in zinc concentrations between children and adolescents with ASD compared to controls. More prospective studies with greater methodological rigor are needed to further characterize this relationship.
Article
Pediatrics
Sharmistha Saha, Mahasweta Chatterjee, Nilanjana Dutta, Swagata Sinha, Kanchan Mukhopadhyay
Summary: This study found a correlation between genetic variants of the dopamine receptor D4 (DRD4) and autism spectrum disorder (ASD). ASD patients showed lower dopamine levels and impaired social and emotional reciprocity, indicating the need for further research.
WORLD JOURNAL OF PEDIATRICS
(2023)
Article
Genetics & Heredity
Francesca Semino, Julian Schroeter, Marjolein H. Willemsen, Thomas Bast, Saskia Biskup, Stefanie Beck-Woedl, Heiko Brennenstuhl, Christian P. Schaaf, Stefan Koelker, Georg F. Hoffmann, Tobias B. Haack, Steffen Syrbe
Summary: This study presents three individuals with novel de novo SYNCRIP variants, all showing intellectual disability, with some displaying autism features and epilepsy. The variants may lead to dysfunction of SYNCRIP, suggesting a correlation with neurodevelopmental disorders such as ID and ASD.
Article
Genetics & Heredity
Taimoor I. Sheikh, Ricardo Harripaul, Nasim Vasli, Majid Ghadami, Susan L. Santangelo, Muhammad Ayub, Roksana Sasanfar, John B. Vincent
Summary: Nucleolin plays a critical role in various biological processes, and mutations can lead to mislocalization of the protein, which may be associated with the etiology of autism spectrum disorder and other neurodevelopmental phenotypes.
Article
Biochemistry & Molecular Biology
Fernando S. Goes, Mehdi Pirooznia, Martin Tehan, Peter P. Zandi, John McGrath, Paula Wolyniec, Gerald Nestadt, Ann E. Pulver
Summary: This study identified numerous de novo variants in BD patients, including loss-of-function and damaging missense variants associated with BD. These variants were enriched in constrained genes, genes located in the postsynaptic density, and the Phosphoinositides pathway. Interestingly, trios with loss-of-function variants did not show evidence of polygenic transmission of common variant risk for BD.
MOLECULAR PSYCHIATRY
(2021)
Article
Genetics & Heredity
Cristina Hernando-Davalillo, Adrian Alcala San Martin, Mar Borregan Prats, Juan Dario Ortigoza-Escobar
Summary: This article describes a case of a 7-year-old girl who was suspected of having ASD and was found to have a duplication of the FAT1 gene through genetic testing. Similar to other reported cases of FAT1 variants or deletion, this patient exhibits non-syndromic ASD without specific facial abnormalities or brain MRI abnormalities. The authors suggest considering FAT1 duplication as a potential cause of ASD.
Article
Genetics & Heredity
Namshin Kim, Kyoung Hyoun Kim, Won-Jun Lim, Jiwoong Kim, Soon Ae Kim, Hee Jeong Yoo
Summary: This study aimed to identify genetic risk factors of ASD through rare de novo variants using whole exome sequencing and genetic network analyses in Korean familial dataset. It identified 36 de novo variants potentially related to ASD, with interactions between variants commonly observed in NF-kappa B signaling pathway. The small cohort size may affect results, but the study provides insights into novel ASD genes.
Review
Behavioral Sciences
Gabriella E. DiCarlo, Mark T. Wallace
Summary: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and restricted interests/repetitive behaviors. Over 1000 genes and 2000 copy number variants have been implicated in ASD. It is believed that there is not a single genetic cause or neurobiological basis for ASD, but rather multiple subtypes with different genetic and neurobiological perturbations. Dopamine dysfunction may be one potential subtype associated with ASD. This research provides a framework for subcategorizing ASD based on genetic changes, neurobiological differences, and behavioral features.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2022)
Article
Biochemical Research Methods
Tan-Hoang Nguyen, Xin He, Ruth C. Brown, Bradley T. Webb, Kenneth S. Kendler, Vladimir Vladimirov, Brien P. Riley, Silviu-Alin Bacanu
Summary: DECO is an integrated method that can model rare variants and gene-sets to identify enriched gene-sets and prioritize additional risk genes. In simulations, DECO outperforms methods that only use variant data, and it has been successfully applied to rare-variant datasets of schizophrenia.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Multidisciplinary Sciences
A. Alonso-Gonzalez, M. Calaza, J. Amigo, J. Gonzalez-Penas, R. Martinez-Regueiro, M. Fernandez-Prieto, M. Parellada, C. Arango, Cristina Rodriguez-Fontenla, A. Carracedo
Summary: The study found that PZMs are expressed in the early to mid-fetal cortex, while germinal DNMs are expressed from early to mid-fetal developmental stages, influencing the risk of ASD.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Richard J. Wang, Muthuswamy Raveendran, R. Alan Harris, William J. Murphy, Leslie A. Lyons, Jeffrey Rogers, Matthew W. Hahn
Summary: The mutation rate is a fundamental evolutionary parameter that affects the health and function of individuals. A study on domestic cats found that their mutation rate is 28% lower than that of humans, but consistent with their shorter generation time. Older sires were found to transmit more mutations.
MOLECULAR BIOLOGY AND EVOLUTION
(2022)
Article
Biology
Jenny Aguilar, Mary Hongying Cheng, Josep Font, Alexandra C. Schwartz, Kaitlyn Ledwitch, Amanda Duran, Samuel J. Mabry, Andrea N. Belovich, Yanqi Zhu, Angela M. Carter, Lei Shi, Manju A. Kurian, Cristina Fenollar-Ferrer, Jens Meiler, Renae Monique Ryan, Hassane S. Mchaourab, Ivet Bahar, Heinrich J. G. Matthies, Aurelio Galli
Summary: Parkinson's disease is a progressive neurodegenerative disorder affecting millions worldwide. The study of dopamine transporter deficiency syndrome has provided insights into the molecular mechanisms underlying disease pathology and potential links to Parkinson's disease and Parkinsonism-dystonia. Through molecular modeling and simulations, researchers have identified a specific mutation in the dopamine transporter that disrupts its function, leading to impaired dopamine neurotransmission and associated motor deficits.
Article
Neurosciences
Song-Jun Xu, Sonia Lombroso, Delaney K. Fischer, Marco D. Carpenter, Dylan M. Marchione, Peter J. Hamilton, Carissa J. Lim, Rachel L. Neve, Benjamin A. Garcia, Mathieu E. Wimmer, R. Christopher Pierce, Elizabeth A. Heller
Summary: The study demonstrated the crucial role of H3K36me3 histone modification in alternative splicing, particularly in the context of mouse cocaine self-administration. Targeted epigenetic editing of H3K36me3 at Srsf11 directly influenced its alternative splicing and enhanced the effects of cocaine self-administration. These findings establish a direct causal relationship between H3K36me3, alternative splicing of Srsf11, and reward behavior.
Article
Genetics & Heredity
Evan Suzman, Zachary J. Williams, Jacob I. Feldman, Michelle Failla, Carissa J. Cascio, Mark T. Wallace, Maria Niarchou, James S. Sutcliffe, Ericka Wodka, Tiffany G. Woynaroski
Summary: The study revised the Interoception Sensory Questionnaire (ISQ) with a new five-response choice scale based on a large online sample, showing improved fit and high internal reliability. However, the limitations include the lack of data from typically developing controls, requiring further investigation on the psychometric properties of the revised version.
Article
Clinical Neurology
E. Singer, M. Niarchou, A. Maxwell-Horn, D. Hucks, R. Johnston, J. S. Sutcliffe, L. K. Davis, B. A. Malow
Summary: This study reviewed a detailed approach to querying sleep problems using electronic health records in a large healthcare center, and found that sleep issues are common in individuals on the autism spectrum. The use of specific keywords in the query structure may be beneficial for future research.
Article
Genetics & Heredity
Maria Niarchou, Julia M. Sealock, Peter Straub, Sandra Sanchez-Roige, James S. Sutcliffe, Lea K. Davis
Summary: Testing the association between genetic scores for Attention Deficit Hyperactivity Disorder (ADHD) and health conditions can provide insights into the complex etiology of ADHD. This study found that genetic scores for ADHD were associated with ADHD diagnoses early in life and with a range of health conditions throughout the lifespan. The results highlight the importance of considering genetic factors when studying clinical conditions.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
(2022)
Article
Neurosciences
Collin D. Teague, Joseph A. Picone, William J. Wright, Caleb J. Browne, Gabriella M. Silva, Rita Futamura, Angelica Minier-Toribio, Molly E. Estill, Aarthi Ramakrishnan, Freddyson J. Martinez-Rivera, Arthur Godino, Eric M. Parise, Kyra H. Schmidt, Nathalia V. Pulido, Zachary S. Lorsch, Jee Hyun Kim, Li Shen, Rachael L. Neve, Yan Dong, Eric J. Nestler, Peter J. Hamilton
Summary: During chronic drug use, brain transcriptional neuroadaptation contributes to changes in drug use behavior. The transcription factor CREB has been shown to counteract the rewarding properties of drugs, and zinc finger protein 189 (Zfp189) is identified as a target gene of CREB in the nucleus accumbens (NAc) of mice. By manipulating the CREB-Zfp189 interaction, researchers found that it can increase Zfp189 expression and decrease the reinforcing responses to cocaine. The induction of Zfp189 by CREB in different types of medium spiny neurons also affects their electrophysiological activity and diminishes cocaine-conditioned behaviors.
BIOLOGICAL PSYCHIATRY
(2023)
Article
Clinical Neurology
Olivia J. Veatch, Diego R. Mazzotti, Robert T. Schultz, Ted Abel, Jacob J. Michaelson, Edward S. Brodkin, Birkan Tunc, Susan G. Assouline, Thomas Nickl-Jockschat, Beth A. Malow, James S. Sutcliffe, Allan Pack
Summary: By analyzing genetic variations associated with autism spectrum disorder (ASD) and sleep disturbances, this study found that individuals with ASD who accumulate potentially damaging genetic variants are more likely to experience sleep duration problems. Specifically, dysfunction in the development of the cerebral cortex may disrupt sleep homeostasis, which is regulated by this brain region.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2022)
Article
Biochemistry & Molecular Biology
Tomer Mizrachi Zer-Aviv, Larglinda Islami, Peter J. Hamilton, Eric M. Parise, Eric J. Nestler, Brenda Sbarski, Irit Akirav
Summary: The FAAH inhibitor URB597 has been found to reduce anxiety, depression, and memory impairments caused by stress through the activation of beta-catenin in the nucleus accumbens (NAc). This novel mechanism may provide a new direction for the treatment of stress-related conditions.
Article
Genetics & Heredity
Jack M. Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Brie Wamsley, Lambertus Klei, Lily Wang, Stephanie P. Hao, Christine R. Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Catalina Betancur, Alfredo Brusco, Brian H. Y. Chung, Edwin H. Cook, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz-Picciotto, Patricia Maciel, Dara S. Manoach, Maria Rita Passos-Bueno, Antonio M. Persico, Alessandra Renieri, James S. Sutcliffe, Flora Tassone, Elisabetta Trabetti, Gabriele Campos, Simona Cardaropoli, Diana Carli, Marcus C. Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina Girardi, Emily Hansen-Kiss, So Lun Lee, Carla Lintas, Yunin Ludena, Rachel Nguyen, Lisa Pavinato, Margaret Pericak-Vance, Isaac N. Pessah, Rebecca J. Schmidt, Moyra Smith, Claudia I. S. Costa, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H. C. Yu, David J. Cutler, Silvia De Rubeis, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Stephan J. Sanders, Michael E. Talkowski
Summary: This study investigated genes associated with functional mutations in individuals with autism spectrum disorder (ASD) and found that some of these genes are also associated with developmental delay (DD). The findings suggest that ASD and DD may share common pathological pathways.
Article
Neurosciences
Arthur Godino, Marine Salery, Romain Durand-de Cuttoli, Molly S. Estill, Leanne M. Holt, Rita Futamura, Caleb J. Browne, Philipp Mews, Peter J. Hamilton, Rachael L. Neve, Li Shen, Scott J. Russo, Eric J. Nestler
Summary: The nuclear receptor transcription factor RXRa plays a crucial role in addictive behaviors by controlling addiction-related transcription programs and modulating the excitability and synaptic activity of core neurons. Manipulation of RXRa can regulate drug reward sensitivity, providing new insights into the study of rexinoid signaling in psychiatric diseases.
Article
Multidisciplinary Sciences
Caleb J. Browne, Rita Futamura, Angelica Minier-Toribio, Emily M. Hicks, Aarthi Ramakrishnan, Freddyson J. Martinez-Rivera, Molly Estill, Arthur Godino, Eric M. Parise, Angelica Torres-Berrio, Ashley M. Cunningham, Peter J. Hamilton, Deena M. Walker, Laura M. Huckins, Yasmin L. Hurd, Li Shen, Eric J. Nestler
Summary: Opioid use disorder (OUD) is a severe medical crisis and understanding the molecular changes involved is crucial for developing effective therapeutics. This study used RNA sequencing and heroin self-administration in mice to create a comprehensive brain reward circuit-wide atlas of opioid-induced transcriptional regulation. Analysis of the data revealed region-specific and pan-circuit biological changes, as well as molecular processes that contribute to OUD vulnerability. Comparison with human OUD data identified potential therapeutic gene candidates. These findings provide important insights into the molecular reprogramming underlying OUD and could inform future treatment strategies.
Meeting Abstract
Neurosciences
Natalie Truby, Richard Kim, Gabriella Silva, Joseph Picone, Xiaohong Cui, Peter Hamilton
NEUROPSYCHOPHARMACOLOGY
(2022)
Meeting Abstract
Neurosciences
Caleb J. Browne, Rita Futamura, Aarthi Ramakrishnan, Xianxiao Zhou, Angelica Minier-Toribio, Freddyson Martinez-Rivera, Molly Estill, Arthur Godino, Angelica Torres-Berrio, Eric M. Parise, Ashley M. Cunningham, Peter J. Hamilton, Deena M. Walker, Bin Zhang, Yasmin L. Hurd, Li Shen, Eric J. Nestler
JOURNAL OF PSYCHIATRY & NEUROSCIENCE
(2022)
Meeting Abstract
Neurosciences
Eric Parise, Trevonn Gyles, Omar Sial, Arthur Godino, Caleb Browne, Lyonna Parise, Angelica Torres-Berrio, Marine Salery, Romain Durand-de Cuttoli, Leanne Holt, Yentl Van der Zee, Zachary Lorsch, Flurin Cathomas, Juliet Garon, Collin Teague, Orna Issler, Peter Hamilton, Carlos Bolanos-Guzman, Scott Russo, Eric Nestler
NEUROPSYCHOPHARMACOLOGY
(2021)
Meeting Abstract
Neurosciences
Joseph Picone, Richard Kim, Gabriella Silva, Natalie Truby, Xiaohong Cui, Peter Hamilton
NEUROPSYCHOPHARMACOLOGY
(2021)
