ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia

In this study, we aimed to evaluate the role of ALMS1 in the morphology of primary cilia and regulation of cellular signaling using a knockdown model of the hTERT-RPE1 cell line. ALMS1 depletion resulted in the formation of longer cilia, which often displayed altered morphology as evidenced by extensive twisting and bending of the axoneme. Transforming growth factor beta/bone morphogenetic protein (TGF-beta/BMP) signaling, which is regulated by primary cilia, was similarly affected by ALMS1 depletion as judged by reduced levels of TGF beta-1-mediated activation of SMAD2/3. These results provide novel information on the role of ALMS1 in the function of primary cilia and processing of cellular signaling, which when aberrantly regulated may underlie Alstrom syndrome.

Automated summary

This study reveals that ALMS1 depletion affects ciliary morphology and TGF-beta/BMP signaling, shedding light on its role in primary cilia function and cellular signaling, potentially linking it to the pathology of Alstrom syndrome.