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Pharmacogenomics: mapping monogenic mutations to direct therapy.

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 ? subunit of the nicotinic receptor linked to myasthenia gravis.

SUBMITTER: Taylor P

PROVIDER: S-EPMC3386840 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature

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Pharmacogenomics: mapping monogenic mutations to direct therapy.

Taylor Palmer P

The Journal of clinical investigation 20120625 7

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 app ...[more]

PMID: 22728931

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