Association of a bitter taste receptor mutation with Balkan Endemic Nephropathy (BEN).

ABSTRACT:

Background

Balkan Endemic Nephropathy (BEN) is late-onset kidney disease thought to arise from chronic exposure to aristolochic acid, a phytotoxin that contaminates wheat supplies in rural areas of Eastern Europe. It has recently been demonstrated that humans are capable of perceiving aristolochic acid at concentrations below 40 nM as the result of high-affinity interactions with the TAS2R43 bitter taste receptor. Further, TAS2R43 harbors high-frequency loss-of-function mutations resulting in 50-fold variability in perception. This suggests that genetic variation in TAS2R43 might affect susceptibility to BEN, with individuals carrying functional forms of the receptor being protected by an ability to detect tainted foods.

Methods

To determine whether genetic variation in TAS2

SUBMITTER: Wooding SP 

PROVIDER: S-EPMC3495054 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature