(mentions HMSN/CMT) Transient receptor potential genes and human inherited dise

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Adv Exp Med Biol. 2011;704:1011-32.

Transient receptor potential genes and human inherited disease.

Everett KV.

St. 's University of London, London, UK

Abstract

Transient receptor potential (TRP) genes have been implicated in a wide array of

human disorders, from cancers to bipolar disorder. The extraordinary range of

diseases in whose pathogenesis they may play a role exemplifies the equally

broad range of functions of the TRP proteins. TRP proteins primarily form

homomeric or heteromeric channels in the cell membrane but there may also be

intracellular non-channel functions for TRPs. Mutations in TRP genes have been

causally associated with at least 12 hereditary human diseases.

This chapter aims to summarise those associations and focuses on the following

diseases: focal segmental glomerulosclerosis; polycystic kidney disease;

brachyolmia; spondylometaphyseal dysplasia; metatropic dysplasia; hereditary

motor and sensory neuropathy; spinal muscular atrophy; congenital stationary

night blindness; progressive familial heart block; hypomagnesaemia; and

mucolipidosis. There appears to be very little to connect these disorders except

the involvement of a TRP gene but by understanding more about the genes involved

in diseases, we understand more about disease biology and about the function of

those genes causally associated. This feedback loop of information will serve to

enhance our knowledge of disease and elucidate basic gene and protein function

of the TRPs.