Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
February 2012
in “
The journal of neuroscience/The Journal of neuroscience
”
TLDR Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
Mutations in the PTPRQ gene caused significant vestibular hair bundle defects in Ptprq(-/-) mice, including elongation, loss, and fusion of stereocilia, particularly in the utricle, saccule, and ampullae. These structural abnormalities persisted up to 12 months without significant hair cell loss. By 3 months, most Ptprq(-/-) mice lacked vestibular evoked potentials, and subtle swimming behavior defects were observed in the majority of mutants. These findings suggested that similar hair bundle defects might contribute to vestibular dysfunction in humans with PTPRQ mutations.
