In PLOS Genetics, researchers from Copenhagen University Hospital Rigshospitalet and elsewhere document cancer predisposition syndromes in a Danish cohort of almost 200 pediatric cancer patients. Using family pedigree mapping, clinical data, and whole-genome sequencing, the team searched for germline single-base or copy number variants associated with cancer susceptibility, uncovering suspicious pathogenic variants or syndrome-related clinical features in 94 of the 198 childhood cancer patients profiled. When they took a closer look at those cases, the authors identified 21 children with apparent childhood-onset cancer predisposition syndromes and nine more cases with apparent ties to adult-onset syndromes. "Overall, roughly half of all patients were suspected of carrying an underlying genetic cause of their cancer," they report, "and a tenth had a verified underlying genetic variant predisposing to cancer development in childhood."
A team from the US, Panama, and UK takes a look at Plasmodium vivax population genomic features in Panama for a paper appearing in PLOS Neglected Tropical Diseases. Based on selective genome amplification and sequencing analyses on dozens of P. vivax isolates collected from 2007 to 2009 and from 2017 to 2019, the investigators placed most of the malaria-causing parasites found in Panama in one long-term lineage with low diversity, coupled with limited introductions from other parts of the world. "We note the need for sustained genomic surveillance of P. vivax in Panama to monitor transmission dynamics in the local population and to further flag imported cases," the authors write, noting that "[t]he low diversity we observe in Panama indicates that this parasite population has been previously subject to a severe bottleneck and may be eligible for elimination."
For a paper in PLOS One, researchers at the University of Toledo and Marshall University explore an apparent anti-fibrotic effect for a microRNA called miR-29b, known for its role in cardiac fibrosis-related functions in animal models. With the help of RNA sequencing and a collagen promoter-controlled plasmid vector containing the miRNA, the team assessed gene expression in mouse embryonic fibroblast cell lines, delineating genes with enhanced or diminished activity in cells with or without active miR-29b after exposure to a fibrosis-regulating TGF-beta cytokine. Among other findings, the authors suggest that results from their experiments "showed a possibility of strategically inhibiting downstream of [the TGF-beta] pathway by a sensor mechanism, which up-regulates the anti-fibrotic molecules in response to fibrotic stimulation."