In PLOS One, a team from Namida Lab, the University of Texas MD Anderson Cancer Center, and elsewhere proposes a non-invasive breast cancer detection strategy based on proteomic changes found in tears. Using liquid chromatography and tandem mass spectrometry, the investigators profiled potential protein markers in tear samples from 102 individuals with or without breast cancer, focusing in on three candidate biomarkers for further enzyme-linked immunosorbent assay-based validation testing in another 75 breast cancer cases and 96 controls. "Our results provide further support for using tear proteins to detect non-ocular systemic diseases such as breast cancer," the authors write, adding that the study "provides crucial details to support the continued evaluation of tear samples in the screening and diagnosis of breast cancer and paves the way for future evaluation of the tear proteome for screening and diagnosis of systemic diseases."
Researchers in Iran, Germany, Australia, and the US report on findings from a pan-cancer microRNA profiling analysis for another study in PLOS One — work pointing to the apparent presence of tumor suppressive miRNAs in normal tissues. With the help of miRNA expression data generated for matched tumor-normal samples spanning 14 cancer types for the Cancer Genome Atlas project, the team flagged so-called normomiR miRNAs with pronounced expression in normal tissues relative to corresponding tumor samples. "Our results reveal a pan-cancer set of tumor-suppressing miRNAs," the authors report, "and highlight the potential of miRNA-replacement therapies for targeting multiple types of tumor."
A Thomas Jefferson University-led team focuses on heritable ectopic calcification conditions for a paper in PLOS Genetics. Using targeted sequencing, exome sequencing, cell line experiments, and other approaches, the researchers characterized clinical and molecular features in 10 individuals with pseudoxanthoma elasticum (PXE) and two patients with another ectopic calcification condition known as generalized arterial calcification of infancy (GACI). In all 12 individuals, their search led to variants affecting both copies of ENPP1, a gene coding for a component of an inorganic pyrophosphate (PPi) pathway involved in dampening down calcification that was previously implicated in GACI. "This study demonstrates that in addition to GACI, ENPP1 variants can cause classic PXE, expanding the clinical and genetic heterogeneity of heritable ectopic calcification disorders," the authors report, adding that these and other findings "challenge the current prevailing concept that plasma PPi governs the severity of ectopic calcification."