The role of NMDA receptor and neuroligin rare variants in synaptic dysfunction underlying neurodevelopmental disorders
| Autor: | Jaehoon Jeong, Katherine W. Roche, Marta Vieira |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Autism Spectrum Disorder Neuroligin Disease Biology Receptors N-Methyl-D-Aspartate 03 medical and health sciences Epilepsy 0302 clinical medicine Postsynaptic potential mental disorders Intellectual disability medicine Humans Gene General Neuroscience medicine.disease 030104 developmental biology Neurodevelopmental Disorders Synapses Autism NMDA receptor Neuroscience 030217 neurology & neurosurgery Signal Transduction |
| Zdroj: | Current Opinion in Neurobiology. 69:93-104 |
| ISSN: | 0959-4388 |
| Popis: | Many genes encoding synaptic proteins are associated with neurodevelopmental disorders (NDDs) such as autism spectrum disorders (ASDs), intellectual disability (ID), and epilepsy. Here we review recent studies on the synaptic effects of disease-associated rare variants identified in two families of synaptic proteins: NMDA receptors (NMDARs) and the postsynaptic adhesion molecules neuroligins (NLGNs). Many NMDAR subunit genes (GRINs) are highly intolerant to variation, and both gain-of-function (GOF) and loss-of-function (LOF) variants are implicated in disease. NLGN genes are also associated with ASDs, and in some cases, contribute to the male bias identified in these patients. Understanding the molecular basis of synaptic dysfunction of rare variants in these genes will help the design of new therapeutic approaches. |
| Databáze: | OpenAIRE |
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