In PLoS One this week, investigators at the Spanish National Cancer Research Centre in Madrid present a complete mutational screen of 301 genes associated with B-cell receptor signaling and related pathways using massively parallel sequencing on samples from 10 chronic lymphocytic leukemia cases. The authors say that their study "identifies new genes mutated in CLL, all of them in cases with progressive disease, and demonstrates that next-generation sequencing technologies applied to selected genes or pathways of interest are powerful tools for identifying novel mutational changes."
Elsewhere in the journal, researchers at Khon Kaen University in Thailand report their use of PCR-based assays to characterize genomic islands in 70 environmental and 64 clinical isolates of Burkholderia pseudomallei, a saprophytic bacterium that can cause the disease melioidosis. "Some virulence genes located in the absent GIs [genomic islands] and the difference of GIs seems to contribute less to bacterial virulence," the authors write, adding that "the PCR detection of two GIs could be used as a cost-effective and rapid tool to detect potentially virulent isolates that were contaminated in soil."
Over in PLoS Genetics, an international team led by investigators at McGill University in Montreal says that while replicating two androgenetic alopecia loci on the X chromosome and chromosome 20, six novel susceptibility loci came into focus. "Unexpectedly, we identified a risk allele at 17q21.31 that was recently associated with Parkinson's disease at a genome-wide significant level," the authors write. They then went on to test the association between early-onset androgenetic alopecia and Parkinson's disease risk in a cross-sectional analysis of 568 Parkinson's disease cases and 7,664 controls, finding that early-onset androgenetic alopecia cases "had significantly increased odds of subsequent PD," the authors add. Then, "combining the risk alleles of six novel and two established susceptibility loci, we created a genotype risk score and tested its association with AGA in an additional sample," the researchers report, adding that, overall, "our results highlight unexpected associations between early-onset AGA, Parkinson's disease, and decreased fertility, providing important insights into the pathophysiology of these conditions."