ArticleCommunications biology2025
Glucocorticoid treatment rescues early lethality in a mouse model of geleophysic dysplasia.
Article in Communications biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Geleophysic dysplasia (GD) is a rare genetic disorder characterized by severe cardiorespiratory dysfunction and poor prognosis. With no cure available, current treatments focus on symptomatic management. Using a cellular model of ADAMTSL2 p.A165T variant, our screening of 2,321 FDA-approved drugs identified several glucocorticoids, particularly betamethasone dipropionate (BMD), which significantly enhance secretion of two crucial proteins for GD, ADAMTSL2 and FBN1 while improving extracellular matrix organization. In a mouse model carrying the Adamtsl2 p.A165T variant, we observed a high early mortality rate, mirroring the short lifespan seen in GD patients. Around only 60% of homozygous p.A165T mice survived beyond two days after birth, while hemizygous p.A165T/- mice had an even lower survival rate of 40%. Notably, BMD administration at birth significantly improved survival rates to 80% and 69%, respectively. These findings suggest that BMD offers a promising therapeutic approach to prevent early mortality in GD patients.
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