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Related Concept Videos

Physiological Control of Respiration01:23

Physiological Control of Respiration

Introduction
Breathing, a seemingly passive process, is regulated by the respiratory center in the brainstem. This center coordinates the involuntary control of respirations, which means it occurs without conscious effort, ensuring a smooth and uninterrupted pattern.
Regulation of Ventilation
The body maintains ventilation by monitoring levels of carbon dioxide (CO2), oxygen (O2), and hydrogen ion concentration (pH) in the arterial blood. Among these factors, the level of CO2 plays a crucial...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Factors Affecting Pulmonary Ventilation01:19

Factors Affecting Pulmonary Ventilation

Besides the pressure difference between the external environment and the lungs, the airflow rate and ease of pulmonary ventilation are also influenced by three other factors: surface tension of the fluid in the alveoli, compliance of the lungs, and airway resistance.
Alveolar Surface Tension
The alveolar fluid lines the luminal surface of the alveoli and exerts a force called surface tension. This force is caused by the polar water molecules in the liquid being more strongly attracted to each...
Neural Control of Respiration01:18

Neural Control of Respiration

The neural regulation of respiration is a meticulously coordinated process primarily controlled by the respiratory centers located within the brainstem. These centers, composed of specialized neurons, transmit nerve impulses that control the contraction and relaxation of our respiratory muscles.
Respiratory Centers in the Brainstem
Two primary areas comprise the respiratory center: the medullary respiratory center in the medulla oblongata and the pontine respiratory group in the pons. The...
Physiology of Respiration II: Neurogenic Control of Respiration01:22

Physiology of Respiration II: Neurogenic Control of Respiration

The neurogenic control of respiration coordinates various neural networks and pathways to regulate breathing rate and depth, meeting the body's oxygen and carbon dioxide exchange requirements. This system adapts to physiological and environmental conditions, ensuring optimal breathing patterns.
Central Control
The brainstem is the primary site of central control, hosting respiratory centers:
Atelectasis II: Pathophysiology01:10

Atelectasis II: Pathophysiology

Atelectasis develops when alveoli lose their air and collapse inward. Because lung tissue is naturally elastic, these air sacs shrink rather than remaining open. Collapsed alveoli are no longer ventilated, reducing their role in gas exchange. Blood flow may continue in these regions, creating a ventilation–perfusion mismatch. Clinical findings include decreased breath sounds, dullness to percussion, reduced chest expansion, and decreased tactile fremitus as sound transmission through collapsed...

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Ventilatory Complexity Persists in Phox2b Mutant Mice Lacking the Retrotrapezoid Nucleus/Parafacial Respiratory Group (RTN/pFRG) and in Humans With Congenital Central Hypoventilation Syndrome.

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Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer
11:46

Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer

Published on: May 26, 2014

PHOX2B mutations and ventilatory control.

Jorge Gallego1, Stéphane Dauger

  • 1INSERM, U676, Hôpital Robert Debré, 48 Bd Sérurier, 75019 Paris, France. jorge.gallego@inserm.fr

Respiratory Physiology & Neurobiology
|August 5, 2008
PubMed
Summary
This summary is machine-generated.

Mouse models reveal PHOX2B gene

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The c-FOS Protein Immunohistological Detection: A Useful Tool As a Marker of Central Pathways Involved in Specific Physiological Responses In Vivo and Ex Vivo
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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • PHOX2B is crucial for autonomic nervous system development.
  • Mutations in PHOX2B cause Congenital Central Hypoventilation Syndrome (CCHS) in humans.
  • CCHS involves sleep hypoventilation, impaired chemosensitivity, and other autonomic dysfunctions.

Purpose of the Study:

  • To investigate the role of PHOX2B in breathing control.
  • To understand the pathophysiology of CCHS using mouse models.
  • To develop tools for evaluating CCHS treatments.

Main Methods:

  • Respiratory phenotype analysis of Phox2b+/- mutant mice.
  • Analysis of Phox2b(27Ala/+) mice modeling human CCHS mutations.
  • Assessment of breathing patterns and hypercapnia sensitivity in newborn mice.

Main Results:

  • Phox2b+/- mice showed transient sleep apneas and reduced hypercapnia sensitivity.
  • Phox2b(27Ala/+) mice exhibited severe respiratory instability and died shortly after birth.
  • Mouse models recapitulate key aspects of CCHS, including respiratory and autonomic deficits.

Conclusions:

  • PHOX2B is essential for maintaining respiratory and autonomic functions postnatally.
  • Mouse models accurately reflect CCHS phenotypes, aiding therapeutic development.
  • Further research on these models can identify treatments for CCHS symptoms.