In PLOS Genetics, investigators in France and the UK describe a rare MAST2 gene mutation with apparent ties to inherited venous thrombosis in a family from France. The team did exome sequencing on members of a multigenerational family affected by venous thromboembolism, uncovering a very rare variant in the microtubule-associated serine/threonine kinase 2 enzyme coding gene, along with shifts in coagulation cascade components in blood plasma — findings that were explored further using RNA sequencing, gene knockdown, and over-expression experiments in cell lines. Together, the findings suggest that the MAST2 variant "interferes with hemostatic balance of endothelial cells," the authors write, and "pave the way for adding MAST2 to list of genes to be sequenced and looked for in thrombophilia families with unprovoked [venous thromboembolism]."
For a paper appearing in PLOS Neglected Tropical Diseases, a Malaysian team takes a look at long non-coding RNA (lncRNAs) patterns in the Asian tiger mosquito Aedes albopictus, focusing on lncRNAs that may affect arboviruses such as dengue, Zika virus, and Chikungunya virus. Using available mosquito genome sequences, the investigators narrowed in on nearly 10,900 previously unappreciated lncRNA transcripts in Ae. albopictus, characterizing the new and known lncRNAs in dengue- or Zika virus-infected Ae. albopictus cells with RNA sequencing, CRISPR-Cas9-based editing, and other approaches. "[T]he expression of certain lncRNAs resulted in increased replication of dengue and Zika … suggesting potential association of lncRNAs in virus infection," the authors report, adding that the results "provide a new avenue to the investigation of mosquito-virus interactions, especially in the aspect of non-coding genes."
Finally, researchers from Pakistan and the US explore interactions between gut microbial community features and active tuberculosis (TB) infection for a paper in PLOS One. The team relied on 16S ribosomal RNA gene sequencing to compare gut microbiome members in fecal samples from 42 individuals with active TB and 40 healthy control individuals in Pakistan, identifying chronic inflammatory disease-related gut microbes that also appeared to coincide with active TB and corresponding blood antibody patterns. "This study demonstrates dysbiosis of the gut microbiome in active TB patients," they write, noting that metagenomic profiling, metaproteomics, and other analyses are needed to get a more refined look at the gut microbiome and to investigate gut bug features in individuals with other forms of lung disease.