Review
Biochemistry & Molecular Biology
Baiyan Ren, Anna Dunaevsky
Summary: Astrocytes, a subtype of glial cells in the central nervous system, exhibit morphological and functional diversity; human pluripotent stem cell differentiation approaches play an important role in studying the etiology of neurological disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Neurosciences
Bipan K. Deb, Helen S. Bateup
Summary: Neurodevelopmental disorders (NDDs) are a group of diseases with early life onset that are characterized by developmental delay, cognitive deficits, and behavioral conditions. Recent evidence suggests that brain somatic mutations may contribute to NDDs, and human brain organoids provide a powerful model for studying these mutations.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Neurosciences
Kelly M. Girskis, Andrew B. Stergachis, Ellen M. DeGennaro, Ryan N. Doan, Xuyu Qian, Matthew B. Johnson, Peter P. Wang, Gabrielle M. Sejourne, M. Aurel Nagy, Elizabeth A. Pollina, Andre M. M. Sousa, Taehwan Shin, Connor J. Kenny, Julia L. Scotellaro, Brian M. Debo, Dilenny M. Gonzalez, Lariza M. Rento, Rebecca C. Yeh, Janet H. T. Song, Marc Beaudin, Jean Fan, Peter Kharchenko, Nenad Sestan, Michael E. Greenberg, Christopher A. Walsh
Summary: HARs are the fastest-evolving regions of the human genome and play a key role in rewiring human-specific neurodevelopmental gene regulatory programs, particularly in enhancing neuronal activity. PPP1R17 is identified as a putative HAR-regulated gene that affects neural progenitor cell cycle progression. These findings highlight the significance of HARs in understanding human-specific neurodevelopment and provide a valuable resource for studying enhancer activity.
Review
Biochemistry & Molecular Biology
Fabiano V. Costa, Tatiana O. Kolesnikova, David S. Galstyan, Nikita P. Ilyin, Murilo S. de Abreu, Elena V. Petersen, Konstantin A. Demin, Konstantin B. Yenkoyan, Allan V. Kalueff
Summary: Psychiatric disorders are prevalent brain pathologies. Reliable animal models are needed for effective treatment. Zebrafish show complex behaviors similar to rodents and humans, making them suitable for modeling psychiatric disorders. However, there are challenges and the field needs further discussion and consideration of clinical prevalence and pathological complexity. Recent developments in molecular biology might pave the way for wider use of zebrafish in CNS disease modeling.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Cell & Tissue Engineering
Silvia Velasco
Summary: Human cortical organoids transplanted into rats' somatosensory cortex can integrate into the host neural circuits, receive inputs from host cells, and produce behavioral responses. This study highlights the potential of this platform for modeling circuit defects associated with neurodevelopmental disorders.
Review
Cell Biology
Raj Bose, Soumyabrata Banerjee, Gary L. Dunbar
Summary: Brain organoids are important in vitro tools for modeling various aspects of brain development and disorders, providing insights into the molecular mechanisms involved in neurological diseases. Models derived from induced pluripotent stem cells (iPSCs), including 2D, 3D, and blood-brain barrier models, have advantages in disease modeling and can be used to develop vascularized and functional 3D models of brain processes. The applications of brain organoids for modeling major neurodegenerative diseases and neurodevelopmental disorders are also explored in this review.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Yueqi Wang, Simone Chiola, Guang Yang, Chad Russell, Celeste J. Armstrong, Yuanyuan Wu, Jay Spampanato, Paisley Tarboton, H. M. Arif Ullah, Nicolas U. Edgar, Amelia N. Chang, David A. Harmin, Vittoria Dickinson Bocchi, Elena Vezzoli, Dario Besusso, Jun Cui, Elena Cattaneo, Jan Kubanek, Aleksandr Shcheglovitov
Summary: The study generated human brain organoids from stem cell-derived isolated single neural rosettes to investigate human cortico-striatal development and deficits caused by abnormalities in the SHANK3 gene.
NATURE COMMUNICATIONS
(2022)
Article
Neurosciences
Bo-Chul Shin, Carlos Cepeda, Mason Eghbali, Shin Yun Byun, Michael S. Levine, Sherin U. Devaskar
Summary: Research has shown that GLUT3 is essential for maintaining neurotransmitory balance, regulating excitation, and preserving functions such as motor coordination, cognition, and spatial memory in adult glutamate-excitatory neurons. Mutations in the GLUT3 gene may lead to anxiety, hyperactivity, and reduced fear responses, showing gender-specific effects.
EXPERIMENTAL NEUROLOGY
(2021)
Article
Neurosciences
Baojin Ding, Yu Tang, Shuaipeng Ma, Masuma Akter, Meng-Lu Liu, Tong Zang, Chun-Li Zhang
Summary: DYT1 dystonia is a hereditary neurologic movement disorder caused by a mutation in the TOR1A gene encoding an ATPase. Modeling the disease using patient-specific neurons revealed that dysregulation of the nuclear lamina protein LMNB1 could be a major molecular mechanism underlying DYT1 pathology.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Behavioral Sciences
Gianluca Malatesta, Daniele Marzoli, Giulia Prete, Luca Tommasi
Summary: Behavioral laterality and hemispheric asymmetries in humans are influenced by genetic, environmental, and epigenetic factors. Early postnatal development involves a sensitive period during which interactions with caregivers can canalize hemispheric lateralization. Adult caregivers, particularly mothers, play a significant role in shaping the lateralized behavior of infants, which may have been selected for as an adaptive trait for offspring fitness. The left-cradling bias is an example of a heritable behavioral trait along the maternal line, and reductions in this bias have been linked to neurodevelopmental disorders.
FRONTIERS IN BEHAVIORAL NEUROSCIENCE
(2021)
Article
Biology
Fraser P. McCready, Sara Gordillo-Sampedro, Kartik Pradeepan, Julio Martinez-Trujillo, James Ellis
Summary: Multielectrode array technology allows the recording of neuronal activity and has been used to study neurodevelopmental disorders. However, the complexity and scale of the data generated pose challenges for analysis and interpretation. This review provides historical context, discusses current challenges, proposes novel analysis methods, and suggests best practices for presenting and sharing multielectrode array data.
Review
Biochemistry & Molecular Biology
Soo-hyun Kim, Mi-Yoon Chang
Summary: Brain organoids derived from human pluripotent stem cells provide an accurate representation of human brain development and function, making them suitable models for neurodevelopmental diseases. Studies have focused on overcoming the limitations of these organoids, such as cellular stress and limited maturation, to enhance their usefulness. Additionally, brain organoid-derived cells show potential for cell replacement therapy in disease treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Chemistry, Multidisciplinary
Geetika Sahni, Shu-Yung Chang, Jeremy Teo Choon Meng, Jerome Zu Yao Tan, Jean Jacques Clement Fatien, Carine Bonnard, Kagistia Hana Utami, Puck Wee Chan, Thong Teck Tan, Umut Altunoglu, Hulya Kayserili, Mahmoud Pouladi, Bruno Reversade, Yi-Chin Toh
Summary: Research has successfully directed the formation of neural embryonic tissues from human pluripotent stem cells, replicating cellular processes relevant to early neurodevelopment. Spatial-temporal patterning of mesoendoderm guides the development of primitive ectoderm, facilitating tissue folding of the prospective neuroepithelium. The model allows for detection of structural dysmorphia in neuroepithelium tissues and differentiation between neural tube defect-inducing drugs.
Review
Cell Biology
Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth
Summary: Primary dysfunction of autophagy due to Mendelian defects affecting core components of the autophagy machinery or closely related proteins has been recognized as an important cause of genetic disease. These disorders can present throughout life, with severe early-onset neurodevelopmental disorders and more common adult-onset neurodegenerative disorders. The overlap between congenital autophagy disorders and other multisystem diseases reflects the complex roles of proteins and suggests a promising area for future research.
Review
Behavioral Sciences
Ariel M. Lyons-Warren, Isabella Herman, Patrick J. Hunt, Benjamin R. Arenkiel
Summary: This systematic literature review of olfactory function testing in mouse models of neurodevelopmental disorders identified intriguing inconsistencies, including evidence for both increased and decreased acuity in odor detection in various mouse models of Autism Spectrum Disorder (ASD). The authors recommend direct comparison of different mouse models of ASD using standardized tests for odor detection and discrimination to guide future research in this area.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2021)