Molecular Variants in Human Trace Amine-Associated Receptors and Their Implications in Mental and Metabolic Disorders
| العنوان: | Molecular Variants in Human Trace Amine-Associated Receptors and Their Implications in Mental and Metabolic Disorders |
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| المؤلفون: | Grazia Rutigliano, Riccardo Zucchi |
| المصدر: | Cellular and Molecular Neurobiology |
| بيانات النشر: | Springer Science and Business Media LLC, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Bipolar disorder, Cell Cycle Proteins, Genetics, Schizophrenia, Single nucletide polymorphism, Trace amine-associated receptors, Single-nucleotide polymorphism, Biology, Receptors, G-Protein-Coupled, TAAR6, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Metabolic Diseases, TAAR1, medicine, Animals, Humans, Receptor, Trace amine, Trace amine-associated receptor, Original Research, 030304 developmental biology, Genetic association, 0303 health sciences, Mental Disorders, Genetic Variation, Cell Biology, General Medicine, medicine.disease, 030217 neurology & neurosurgery |
| الوصف: | We provide a comprehensive review of the available evidence on the pathophysiological implications of genetic variants in the human trace amine-associated receptor (TAAR) superfamily. Genes coding for trace amine-associated receptors (taars) represent a multigene family of G-protein-coupled receptors, clustered to a small genomic region of 108 kb located in chromosome 6q23, which has been consistently identified by linkage analyses as a susceptibility locus for schizophrenia and affective disorders. Most TAARs are expressed in brain areas involved in emotions, reward and cognition. TAARs are activated by endogenous trace amines and thyronamines, and evidence for a modulatory action on other monaminergic systems has been reported. Therefore, linkage analyses were followed by fine mapping association studies in schizophrenia and affective disorders. However, none of these reports has received sufficient universal replication, so their status remains uncertain. Single nucleotide polymorphisms intaarshave emerged as susceptibility loci from genome-wide association studies investigating migraine and brain development, but none of the detected variants reached the threshold for genome-wide significance. In the last decade, technological advances enabled single-gene or whole-exome sequencing, thus allowing the detection of rare genetic variants, which may have a greater impact on the risk of complex disorders. Using these approaches, severaltaars(especiallytaar1) variants have been detected in patients with mental and metabolic disorders, and in some cases, defective receptor function has been demonstrated in vitro. Finally, with the use of transcriptomic and peptidomic techniques, dysregulations of TAARs (especially TAAR6) have been identified in brain disorders characterized by cognitive impairment. |
| تدمد: | 1573-6830 0272-4340 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::978b88800dd37be49d8e67891e7169ac https://doi.org/10.1007/s10571-019-00743-y |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....978b88800dd37be49d8e67891e7169ac |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 15736830 02724340 |
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