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Molecular mechanisms of cilia related diseases [editorial]
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Orientador(es)
Resumo(s)
Eukaryotic cilia are fascinating evolutionarily conserved microtubule-based organelles that protrude from the cell surface. In vertebrates, multiple types of motile and primary (immotile) cilia fulfill motility and signaling functions, critical for embryonic development and homeostasis of adult tissues. Importantly, perturbed cilia assembly and functions are associated with a growing number of diseases. This Research Topic gathers an update on recent progress made in understanding the molecular mechanisms of cilia-related diseases. Critically, understanding disease development has been facilitated by advances in technology. For example, the importance of omics techniques for monitoring the progression of cilia-associated rare diseases is showcased in the work of (Jeziorny et al.). This study applied an untargeted metabolomic approach using LC-QTOF-MS to study patients with Alström (ALMS) and Bardet-Biedl (BBS), which shared defective primary ciliary structures and found common molecular fingerprints between ALMS and BBS, and alterations in various lipid metabolites when comparing obese and healthy participants.
Descrição
Palavras-chave
Ciliopathies Cilium Molecular mechanisms of disease Organelle Cytoskeleton Signalling Rare genetic diseases
Contexto Educativo
Citação
Carvalhal S, Carmona B, Tassin AM, Gonçalves J. Molecular mechanisms of cilia related diseases [editorial]. Front Mol Biosci. 2024;11:1421419.
Editora
Frontiers Media