Thermosensory and mechanosensory perception in human genetic disease
1 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA and 2 Department of Cell Biology, Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA
* To whom correspondence should be addressed. Tel: +1 919 684 8994; Email: katsanis{at}cellbio.duke.edu
Received August 4, 2009; Accepted August 24, 2009
Peripheral sensory perception is established through an elaborate network of specialized neurons that mediate the translation of extraorganismal stimuli through the use of a broad array of receptors and downstream effector molecules. Studies of human genetic disorders, as well as mouse and other animal models, have identified some of the key molecules necessary for peripheral innervation and function. These findings have, in turn, yielded new insights into the developmental networks and homeostatic mechanisms necessary for the transformation of external stimuli into interpretable electrical impulses. In this review, we will summarize and discuss some of the genes/proteins implicated in two particular aspects of sensory perception, thermosensation and mechanosensation, highlighting pathways whose perturbation leads to both isolated and syndromic sensory deficits.