In Science, Johns Hopkins Medicine’s Aravinda Chakravarti previews next week’s International Congress of Human Genetics 2011 to be held in Montreal, saying that “advances in biomedical research have raised high expectations for translating research into medical applications, including individualizing treatment and prevention,” and adding that, for genomic medicine, “there is no time with a more acute need for science than now."
In a paper published online in advance this week, an international team led by investigators at University College London reports on a de novo mutation, p.Glu17Lys, in the serine/threonine kinase AKT2. It identified the mutation in two cases of pathological fasting hypoglycemia as heterozygotes and, in one case, in mosaic form. “In heterologous cells, the mutant AKT2 was constitutively recruited to the plasma membrane, leading to insulin-independent activation of downstream signaling,” the team says, adding that, as such, “systemic metabolic disease can result from constitutive, cell-autonomous activation of signaling pathways normally controlled by insulin.”
Elsewhere, two separate teams discuss “adaptation to climate across the Arabidopsis thaliana genome,” and report a map of such based on “field experiments in four sites across the species’ native range.” Our sister publication GenomeWeb Daily News has more on these Arabidopsis studies.
Over in Science Translational Medicine, researchers at Harvard Medical School show that “penetrance of … autism traits depended on Ube3a gene copy number.” In an animal model in which they tripled the dosage of Ube3a, the researchers found that “glutamatergic, but not GABAergic, synaptic transmission was suppressed as a result of reduced presynaptic release probability, synaptic glutamate concentration, and postsynaptic action potential coupling,” suggesting that “Ube3a gene dosage may contribute to the autism traits of individuals with maternal 15q11-13 duplication,” they write.