Mutations of brainstem transcription factors and central respiratory disorders
| Autor: | Bruno Blanchi, Michael H. Sieweke |
|---|---|
| Přispěvatelé: | Centre d'Immunologie de Marseille - Luminy (CIML), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS) |
| Rok vydání: | 2005 |
| Předmět: |
MESH: Cell Differentiation
Pathology medicine.medical_specialty Central sleep apnea MESH: Mutation MESH: Neurons Biology MESH: Mice Knockout 03 medical and health sciences Mice 0302 clinical medicine Molecular level 030225 pediatrics medicine Animals Humans MESH: Animals Respiratory system Molecular Biology Gene Transcription factor MESH: Mice 030304 developmental biology MESH: Respiration Mice Knockout Neurons 0303 health sciences MESH: Humans Respiration Cell Differentiation MESH: Transcription Factors Sudden infant death syndrome medicine.disease Respiration Disorders Phenotype 3. Good health MESH: Respiration Disorders MESH: Brain Stem Mutation Molecular Medicine [SDV.IMM]Life Sciences [q-bio]/Immunology Brainstem Neuroscience Brain Stem Transcription Factors |
| Zdroj: | Trends in Molecular Medicine Trends in Molecular Medicine, Elsevier, 2005, 11 (1), pp.23-30. ⟨10.1016/j.molmed.2004.11.005⟩ Trends in Molecular Medicine, 2005, 11 (1), pp.23-30. ⟨10.1016/j.molmed.2004.11.005⟩ |
| ISSN: | 1471-4914 |
| DOI: | 10.1016/j.molmed.2004.11.005⟩ |
| Popis: | Several pathologies, such as central hypoventilation syndrome, central sleep apnea and cases of sudden infant death syndrome, involve defects in central breathing control. On a cellular and molecular level these disorders remain poorly defined and mechanistically not understood. A complex network of distinct brainstem neurons coordinates respiratory rhythm generation and modulation, which traditionally has been mapped by anatomical, physiological and pharmacological techniques. Recently, targeted gene inactivation of several transcription factors in mice was found to affect the development of specific groups of brainstem neurons and result in distinct respiratory phenotypes. These mutants promise a higher precision in the analysis of central breathing control and new diagnostic perspectives for respiratory syndromes, as indicated by the recent discovery of corresponding mutations in humans. |
| Databáze: | OpenAIRE |
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