Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome.

ABSTRACT: Congenital central hypoventilation syndrome (CCHS), a rare genetic disease caused by heterozygous PHOX2B mutations, is characterized by life-threatening breathing deficiencies. PHOX2B is a transcription factor required for the specification of the autonomic nervous system, which contains, in particular, brainstem respiratory centers. In CCHS, PHOX2B mutations lead to cytoplasmic PHOX2B protein aggregations, thus compromising its transcriptional capability. Currently, the only available treatment for CCHS is assisted mechanical ventilation. Therefore, identifying molecules with alleviating effects on CCHS-related breathing impairments is of primary importance. A transcriptomic analysis of cells transfected with different PHOX2B constructs was used to identify compounds

SUBMITTER: Africano C 

PROVIDER: S-EPMC11426119 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature