Pharmacogenomics: mapping monogenic mutations to direct therapy.
The molecular mapping of mutations that underlie congenital disorders of monogenic origin can result in both a broader understanding of the molecular basis of the disorder and novel therapeutic insights. Indeed, genotyping patients and then replicating the behavior of the mutant gene products in well-defined biochemical or electrophysiological systems will allow tailoring of therapy to be mutation- and protein sequence-dependent. In this issue of the JCI, Shen and colleagues describe such an approach that identified novel mutations in the α subunit of the nicotinic receptor linked to myasthenia gravis.
Palmer
P
Taylor
D005260:Female; D006801:Humans; D020125:Mutation, Missense; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics*; D011978:Receptors, Nicotinic / Q000235:genetics*
C523021:CHRNA1 protein, human; D011978:Receptors, Nicotinic