Distinct roles of GRIN2A and GRIN2B variants in neurological conditions [version 1; peer review: 2 approved]

Scott J Myers ; Yuan, Hongjie ; et al.

In: F1000Research, Jg. 8 (2019-11-20), S. F1000 Faculty Rev-1940

Online academicJournal

Zugriff:

Rapid advances in sequencing technology have led to an explosive increase in the number of genetic variants identified in patients with neurological disease and have also enabled the assembly of a robust database of variants in healthy individuals. A surprising number of variants in the GRIN genes that encode N-methyl-D-aspartate (NMDA) glutamatergic receptor subunits have been found in patients with various neuropsychiatric disorders, including autism spectrum disorders, epilepsy, intellectual disability, attention-deficit/hyperactivity disorder, and schizophrenia. This review compares and contrasts the available information describing the clinical and functional consequences of genetic variations in GRIN2A and GRIN2B. Comparison of clinical phenotypes shows that GRIN2A variants are commonly associated with an epileptic phenotype but that GRIN2B variants are commonly found in patients with neurodevelopmental disorders. These observations emphasize the distinct roles that the gene products serve in circuit function and suggest that functional analysis of GRIN2A and GRIN2B variation may provide insight into the molecular mechanisms, which will allow more accurate subclassification of clinical phenotypes. Furthermore, characterization of the pharmacological properties of variant receptors could provide the first opportunity for translational therapeutic strategies for these GRIN-related neurological and psychiatric disorders.

Titel:	Distinct roles of GRIN2A and GRIN2B variants in neurological conditions [version 1; peer review: 2 approved]
Autor/in / Beteiligte Person:	Scott J Myers ; Yuan, Hongjie ; Kang, Jing-Qiong ; Francis Chee Kuan Tan ; Stephen F Traynelis ; Low, Chian-Ming
Link:	View record at F1000Research (Volltext)
Zeitschrift:	F1000Research, Jg. 8 (2019-11-20), S. F1000 Faculty Rev-1940
Veröffentlichung:	London, UK: F1000 Research Limited, 2019
Medientyp:	academicJournal
ISSN:	2046-1402 (print)
DOI:	10.12688/f1000research.18949.1
Schlagwort:	Review Articles NMDA receptors GRIN2A GRIN2B GluN2A GluN2B mutations neurological disorder psychiatric disorders autism epilepsy intellectual disability ADHD schizophrenia precision medicine
Sonstiges:	Nachgewiesen in: F1000Research Document Type: review Author Affiliations: 1 = Center for Functional Evaluation of Rare Variants (CFERV), Emory University, Atlanta, GA, USA ; 2 = Department of Pharmacology and Chemical Biology, Emory University, Atlanta, GA, USA ; 3 = Department of Neurology, Vanderbilt Brain Institute, Vanderbilt Kennedy Center of Human Development, Vanderbilt University, Nashville, TN, USA ; 4 = Department of Anaesthesia, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore ; 5 = Department of Pharmacology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore Rights: Copyright: © 2019 Myers SJ et al. Notes: Editorial Note on the Review Process F1000 Faculty Reviews are commissioned from members of the prestigious F1000 Faculty and are edited as a service to readers. In order to make these reviews as comprehensive and accessible as possible, the referees provide input before publication and only the final, revised version is published. The referees who approved the final version are listed with their names and affiliations but without their reports on earlier versions (any comments will already have been addressed in the published version). The referees who approved this article are: Wenjun Gao, Department of Neurobiology and Anatomy, Drexel University College of Medicine, Philadelphia, PA, USA No competing interests were disclosed. David Lynch, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA No competing interests were disclosed. ; [version 1; peer review: 2 approved]

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