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Mafa-dependent GABAergic activity promotes mouse neonatal apneas.
Laure Lecoin1,2,3, Bowen Dempsey4,5, Alexandra Garancher6
1Institut Curie CNRS UMR 3347, Inserm U1021, UPSaclay, bat 110 Centre Universitaire, 91405, ORSAY, France. laure.lecoin@college-de-france.fr.
Nature Communications
|June 7, 2022
Summary
A mutated transcription factor Mafa (Mafa4A) causes neonatal apnea and death in mice by disrupting GABAergic signaling. This research uncovers a novel molecular pathway linked to sudden infant death syndrome.
Area of Science:
- Neuroscience
- Molecular Biology
- Genetics
Background:
- Apneas are linked to severe health issues, but their molecular causes are unclear.
- Understanding the genetic and neural basis of breathing regulation is critical for infant health.
Purpose of the Study:
- To investigate the molecular mechanisms underlying neonatal apnea.
- To identify the role of the transcription factor Mafa in respiratory control.
Main Methods:
- Utilized Mafa4A mutant mice to study apnea.
- Examined the effects of Mafa mutation on GABAergic neurons and Gad2 promoter activity.
- Investigated Mafa neuron distribution in the brainstem.
Main Results:
- Mafa4A mutation in mice leads to increased neonatal apnea and mortality.
- Apneic breathing is associated with altered GABAergic signaling and Mafa neuron activity.
- Mafa regulates Gad2 expression, impacting inhibitory drives to upper airway muscles.
Conclusions:
- Mafa phosphorylation is crucial for regulating GABAergic drives in respiratory control.
- Disrupted premotor drives to upper airway muscles due to Mafa dysfunction may cause neonatal apnea.
- This study provides insights into the molecular underpinnings of breathing disorders at birth.
