Medical Research Council - London Institute of Medical Sciences

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Broken Antennae

Signalling pathway identified at fault in ciliopathy-related hearing loss

11 February 2021

Broken Antennae

Most cells in your body contain powerful microscopic antennae called primary cilia. For example, they detect biological signals to control development, and, in the inner ear, cilia (bundles captured here by scanning electron micrography) on hair cells detect sound vibrations which translate as nerve signals to the brain. Primary cilia defects cause a diverse group of diseases called ciliopathies, with many sharing a common symptom of hearing loss. Researchers investigate why in three mouse models with differently affected kinocilia – the tallest cilium in the rows of cilia found on hair cells. One had no kinocilia, one abnormally long kinocilia and one swollen kinocilia (pictured). The team analysed these mutants cells, focusing on the activity of the Sonic hedgehog signalling pathway (Shh). Pathway activity was reduced in mutants, causing defects in hair cell maturation. Defective Shh signalling may therefore underlie ciliopathy-related hearing loss.

Written by Lux Fatimathas

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