KCC2 expression levels are reduced in post mortem brain tissue of Rett syndrome patients
| Autor: | Vivi M. Heine, Joan Torrella Barrufet, Lisa Hinz |
|---|---|
| Přispěvatelé: | ANS - Cellular & Molecular Mechanisms, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Complex Trait Genetics, Pediatric surgery |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Gene isoform medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Adolescent Gene Expression Rett syndrome Case Report Biology lcsh:RC346-429 Pathology and Forensic Medicine MECP2 03 medical and health sciences Cellular and Molecular Neuroscience Young Adult Neuronal network immaturity 0302 clinical medicine Neurodevelopmental disorder SDG 3 - Good Health and Well-being Internal medicine medicine Humans Methyl-CpG binding lcsh:Neurology. Diseases of the nervous system Symporters E/I imbalance Brain Human brain medicine.disease 030104 developmental biology Endocrinology medicine.anatomical_structure KCC2-deficiency GABAergic Female Neurology (clinical) 030217 neurology & neurosurgery Homeostasis |
| Zdroj: | Hinz, L, Torrella Barrufet, J & Heine, V M 2019, ' KCC2 expression levels are reduced in post mortem brain tissue of Rett syndrome patients ', Acta Neuropathologica Communications, vol. 7, no. 1, 196 . https://doi.org/10.1186/s40478-019-0852-x Acta Neuropathologica Communications Acta neuropathologica communications, 7(1):196. BioMed Central Hinz, L, Torrella Barrufet, J & Heine, V M 2019, ' KCC2 expression levels are reduced in post mortem brain tissue of Rett syndrome patients ', Acta neuropathologica communications, vol. 7, no. 1, 196 . https://doi.org/10.1186/s40478-019-0852-x Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-6 (2019) Acta Neuropathologica Communications, 7(1):196. BioMed Central |
| ISSN: | 2051-5960 |
| DOI: | 10.1186/s40478-019-0852-x |
| Popis: | Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 (MECP2) gene. Deficient K+-Cl—co-transporter 2 (KCC2) expression is suggested to play a key role in the neurodevelopmental delay in RTT patients’ neuronal networks. KCC2 is a major player in neuronal maturation by supporting the GABAergic switch, through the regulation of neuronal chlorine homeostasis. Previous studies suggest that MeCP2 mutations lead to changed KCC2 expression levels, thereby causing a disturbance in excitation/inhibition (E/I) balance. To investigate this, we performed protein and RNA expression analysis on post mortem brain tissue from RTT patients and healthy controls. We showed that KCC2 expression, in particular the KCC2a isoform, is relatively decreased in RTT patients. The expression of Na+-K+-Cl− co-transporter 1 (NKCC1), responsible for the inward transport of chlorine, is not affected, leading to a reduced KCC2/NKCC1 ratio in RTT brains. Our report confirms KCC2 expression alterations in RTT patients in human brain tissue, which is in line with other studies, suggesting affected E/I balance could underlie neurodevelopmental defects in RTT patients. |
| Databáze: | OpenAIRE |
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