Cilia, mitochondria, and cardiac development
Bill Chaudhry, Deborah J. Henderson
Bill Chaudhry, Deborah J. Henderson
Published July 1, 2019; First published June 17, 2019
Citation Information: J Clin Invest. 2019;129(7):2666-2668. https://doi.org/10.1172/JCI129827.
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Commentary

Cilia, mitochondria, and cardiac development

Abstract

Motile cilia provide propulsion, and immotile ones are enriched with receptors. Both are required to establish left-right identity in the developing embryo and are also implicated in a wide range of human diseases. Abnormalities in cilial function underlie heterotaxy congenital heart disease (CHD) occurring in individuals with laterality disturbance. Mitochondrial function and cellular energetics, through mTOR and autophagy, are now linked with cilial function, revealing new mechanisms and candidate genes for syndromic human disease. In the current issue of the JCI, Burkhalter et al. ask the question: Can mitochondrial disturbances produce ciliopathy and does this explain some cases of heterotaxy?

Authors

Bill Chaudhry, Deborah J. Henderson

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Figure 1

Aberrant mitochondrial function and cilial length.

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Aberrant mitochondrial function and cilial length. The primary cilium is...
The primary cilium is actively constructed and deconstructed when the cell is not dividing. Receptors are enriched on the ciliary membrane and when bound by ligands internalized within the ciliary pocket. The same proteins used within the cilium are also used for vesicular transport across the general microtubular cytoskeleton. The mTOR pathway couples the cellular energetic status to mitochondrial biogenesis and cilial length. Cilia located in the embryonic node are also regulated by mTOR. Motile cilia rotate in a clockwise direction and create flow across the surface of the node. This is detected by primary immotile cilia at the rim of the node, activating a gene-signaling cascade resulting in the establishment of left somatic identity.