[Genetics and respiratory control: studies in normal humans and genetically modified animals].
BACKGROUND
Studies into the contribution of genetic factors to respiratory control disorders are scarce, with impediments to their conduct including difficulties in characterizing these disorders, the large number of genes involved in respiratory control, and interactions between genetic and environmental factors.


BACKGROUND
The rare congenital central hypoventilation syndrome (CCHS) has opened up the field of respiratory control genetics. Heterozygous mutations of genes involved in neural crest development were discovered recently. Studies in mutant mice have identified respiratory control disturbances related to loss of function of genes involved in neural crest development, genes encoding transcription factors, diffusible factors, and proteins contributing to neurotransmission.


CONCLUSIONS
Future genetic epidemiological studies in humans and new models of mutant mice should describe genes involved in respiratory control. Better knowledge of CCHS genetics should provide guideposts for investigating the genetics of other respiratory control disorders.


CONCLUSIONS
Respiratory control genetics is opening up new paths for research into respiratory physiology and pathophysiology.
Gaultier
C
C
Service de Physiologie, Hôpital Robert-Debré, Paris, France. claude.gaultier@rdb.ap-hop-paris.fr
Simonneau
M
M
Dauger
S
S
Gallego
J
J
D000293:Adolescent; D000328:Adult; D000818:Animals; D030801:Animals, Genetically Modified / Q000235:genetics*; D000831:Animals, Newborn; D002628:Chemoreceptor Cells / Q000502:physiology; D005544:Forecasting; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D000860:Hypoxia / Q000503:physiopathology; D007231:Infant, Newborn; D008465:Mechanoreceptors / Q000502:physiology; D051379:Mice / Q000235:genetics; D009154:Mutation; D009432:Neural Crest / Q000254:growth & development; D010641:Phenotype; D051381:Rats / Q000235:genetics; D012106:Research; D012119:Respiration / Q000235:genetics*; D012120:Respiration Disorders / Q000235:genetics*; D012125:Respiratory Center / Q000502:physiology*; D020182:Sleep Apnea, Central / Q000151:congenital / Q000235:genetics*; D009435:Synaptic Transmission / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014158:Transcription, Genetic
D014157:Transcription Factors
Génétique et contrôle respiratoire.