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THE CONGENITAL HYPOVENTILATION DISEASE-CAUSING LBX1 GENE AND ITS FUNCTION IN RESPIRATORY NEURON SPECIFICATION
Luis Rodrigo Hernandez-Mirandaand 1 co-author
Universitat Ulm
FENS Forum 2026 (2026)
Barcelona, Spain
Board PS05-09AM-371
Presentation
Date TBA
Board: PS05-09AM-371
Event Information
Poster Board
PS05-09AM-371
Poster
View posterAbstract
Congenital central hypoventilation disorders are rare but life-threatening conditions characterized by hypoventilation, elevated arterial CO₂ levels, and sleep-associated apnea. One of these disorders, congenital central hypoventilation syndrome (CCHS), is classically caused by mutations in the transcription factor gene PHOX2B; however, the specific neurological deficits resulting from these genetic alterations remain poorly understood. Recent work from our group has identified mutations in another transcription factor gene, LBX1, that also contribute to CCHS pathogenesis. Using mouse models, we demonstrate that LBX1 mutations selectively disrupt the development of a highly specific population of medullary neurons involved in neonatal respiratory regulation. These neurons, termed dB2, co-express LBX1 and PHOX2B. Functional analyses reveal that the loss of several subpopulations of dB2 neurons is sufficient to fully recapitulate the respiratory phenotypes observed in CCHS patients. Together, these findings identify LBX1 as a critical regulator of medullary respiratory circuitry and expand the genetic and mechanistic framework underlying congenital central hypoventilation disorders.
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