The Role of PIEZO2 in Human Mechanosensation.

ABSTRACT:

Background

The senses of touch and proprioception evoke a range of perceptions and rely on the ability to detect and transduce mechanical force. The molecular and neural mechanisms underlying these sensory functions remain poorly defined. The stretch-gated ion channel PIEZO2 has been shown to be essential for aspects of mechanosensation in model organisms.

Methods

We performed whole-exome sequencing analysis in two patients who had unique neuromuscular and skeletal symptoms, including progressive scoliosis, that did not conform to standard diagnostic classification. In vitro and messenger RNA assays, functional brain imaging, and psychophysical and kinematic tests were used to establish the effect of the genetic variants on protein function and somatosensation.

Results

SUBMITTER: Chesler AT 

PROVIDER: S-EPMC5911918 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature