CHEST Guidelines-Manifold-Embryonic-Ciliary-Functions-in-the-Genesi

Manifold-Embryonic-Ciliary-Functions-in-the-Genesi

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The letter to the editor, written by Dr. Jerome M. Reich, discusses the roles of cilia in the development of Kartagener Syndrome and heterotaxy, conditions associated with primary ciliary dyskinesia (PCD). Known for their involvement in bronchiectasis, sinusitis, hearing loss, and infertility due to immotility of sperm and oviducts, cilia's function extends to embryonic development. Specifically, deficits in ciliary motility may lead to situs errors and heterotaxy, which affect organ positioning and symmetry. Research by Cartwright and Slough have shown that cilia determine left-right asymmetry and play a role in cardiac development.<br /><br />Reich questions if these findings offer a unified understanding of Kartagener syndrome’s features, and highlights the adaptive evolution of ciliary motility. In response, the authors affirm the established link between motile cilia and organ laterality defects, citing animal studies where dynein arm defects in cilia caused PCD. They outline that various signaling pathways required for heart and organ formation might involve both motile and nonmotile cilia.<br /><br />The response explains that, while human studies have not shown PCD associated with cardiac or organ laterality defects involving certain ciliary structures, ciliary dysfunction is seen in several syndromes like Bardet-Biedl and Meckel, emphasizing the sensory roles of cilia. The correspondence is a discourse on the intrinsic connection between ciliary dysfunction in PCD and its broader implications in embryonic development, supporting the notion of cilia as mechanosensors that influence morphogenesis and function in diverse ways. This ongoing dialogue enhances understanding of the genetic and developmental nuances of cilia-related disorders.

Keywords

Kartagener Syndrome

primary ciliary dyskinesia

cilia

heterotaxy

bronchiectasis

situs errors

dynein arm defects

organ laterality

embryonic development

ciliary motility