Human Genetic Variation Alters Anthrax Toxin Sensitivity
Martchenko, Candille et al., PNAS
Researchers at Stanford University School of Medicine show that genetic variation affecting capillary morphogenesis gene 2, or CMG2, dramatically alters toxin sensitivity in humans. In its analysis, the team reports on "a CMG2 single-nucleotide polymorphism occurring frequently in African and European populations [that they found] independently altered toxin uptake." The group goes on to suggest "testing of genomically characterized human cell populations may offer a broadly useful strategy for elucidating effects of genetic variation on infectious disease susceptibility."
A Variant Here, But Not There
December 24, 2009
David Basanta at Cancerevo: Evolution and cancer picked up on a Human Mutatation paper from Bruce Gottlieb and his colleagues that studied the genetic influences on abdominal aortic aneurysms. The researchers found BAK1 SNPs in aneurysmic and healthy tissue without seeing them in the corresponding blood samples. From this, Gottlieb and his colleagues "propose a novel hypothesis postulating that multiple variants of genes may preexist in 'minority' forms within specific nondiseased tissues and be selected for, when intra- and/or extracellular conditions change." This raised a lot of questions in Basanta's mind. He wonders: "How would this affect personalised treatments (i.e. based on doing a genomic analysis of the patient)? Does that mean that finding genetic differences in a cell (when compared with cells in other tissues) does not necessarily constitute cause for alarm (as it does not have to be the result of somatic mutations)?"
This is also an issue with
This is also an issue with MDR1 (ABCB1)