Key result
The A224D mutation in the human PAF receptor, found at a 7.8% allele frequency in a Japanese population, resulted in a partial but significant reduction of PAF-induced intracellular signals.
Population
Chinese hamster ovary cells stably transfected with constructs encoding either wild-type or A224D mutated…
Comparison
Expression of A224D mutant PAFR and stimulation… vs Expression of wild-type PAFR and stimulation…
Design
Preclinical
Authors
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May explain interindividual PAF response variation; hypothesis-generating for disease associations and requires clinical validation.
The naturally occurring A224D mutation in the human PAFR gene impairs G-protein coupling, which may contribute to interindividual variation in PAF-related physiological and disease responses.
Fukunaga et al. (2001) studied this question. A224D mutation in PAFR vs. Wild-type PAFR was evaluated on PAF-induced intracellular signals (calcium mobilization, inositol phosphate production, inhibition of adenylyl cyclase, and chemotaxis). The A224D mutation in the human PAF receptor, found at a 7.8% allele frequency in a Japanese population, resulted in a partial but significant reduction of PAF-induced intracellular signals.
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