Referenced in: none

Automatically associated channels: Kv10.1

Title: Pharmacogenomics: mapping monogenic mutations to direct therapy.

Authors: Palmer Taylor

Journal, date & volume: J. Clin. Invest., 2012 Jul 2 , 122, 2356-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22728931

Abstract
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.