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Published on: January 29, 2011
Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation
Michael S Carroll1, Pallavi P Patwari, Debra E Weese-Mayer
1Center for Autonomic Medicine in Pediatrics, Children's Memorial Hospital, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60614, USA.
Insights
Congenital central hypoventilation syndrome (CCHS) and related disorders involve respiratory and autonomic dysfunction. Research into the PHOX2B gene has advanced understanding of CCHS, improving patient care.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Respiratory and autonomic disorders present with varying severity, impacting respiratory control and autonomic nervous system function.
- Congenital central hypoventilation syndrome (CCHS) and rapid onset obesity with hypothalamic dysfunction (ROHHD) demonstrate significant respiratory deficits, often necessitating ventilatory support.
- The PHOX2B gene is crucial for autonomic nervous system development, and mutations are linked to CCHS.
Purpose of the Study:
- To explore the role of PHOX2B gene mutations in CCHS.
- To advance understanding of genotype-phenotype correlations in CCHS.
- To delineate the phenotype of ROHHD and identify potential research avenues.
Main Methods:
- Review of existing literature on CCHS and ROHHD.
- Analysis of genotype-phenotype correlations in CCHS.
- Examination of animal models for chemosensory regulation deficits.
Main Results:
- PHOX2B gene mutations are identified as a key cause of CCHS.
- Significant progress has been made in understanding genotype-phenotype correlations in CCHS.
- Animal models have been developed to study chemosensory regulation deficits.
- Phenotypic characteristics of ROHHD are beginning to be defined.
Conclusions:
- PHOX2B gene discoveries have significantly advanced CCHS research and patient care.
- Further research into ROHHD is expected to yield valuable insights and improve patient outcomes.
- Understanding these complex disorders requires collaboration between basic scientists and physician-scientists.
Abstract:
Respiratory and autonomic disorders of infancy, childhood, and adulthood are a group of disorders that have varying presentation, combined with a range of severity of respiratory control and autonomic nervous system dysfunction. Within this group, congenital central hypoventilation syndrome and rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation, exhibit the greatest respiratory control deficits, requiring supported ventilation as a mainstay of care. The discovery of the key role of the paired-like homeobox 2B gene in autonomic nervous system development, along with the identification of paired-like homeobox 2B gene mutations causing congenital central hypoventilation syndrome, has led to a fruitful dialog between basic scientists and physician-scientists, producing an explosion of knowledge regarding genotype-phenotype correlations in this disorder, as well as important animal models of chemosensory regulation deficit. Though the etiology of rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation is still to be determined, recent studies have begun to carefully delineate the phenotype, suggesting that it too may provide fertile ground for research that both advances our knowledge and improves patient care.
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