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PNAS Papers on Hypertrophic Cardiomyopathy, Major Depression, Spanish SARS-CoV-2 Cat

Investigators from the US, UK, and Australia describe similar sarcomeric muscle protein patterns in clinically distinct forms of an inherited heart disease called hypertrophic cardiomyopathy. Using mass spectrometry-based proteomics, the team profiled so-called sarcomeric proteoforms in surgically collected heart samples from 16 hypertrophic cardiomyopathy-affected individuals experiencing a complication known as severe outflow track obstruction and in as many patients with non-failing hearts. Despite distinct disease-related genotypes, the authors write, the findings point to shared sarcomeric proteoform features across hypertrophic cardiomyopathy phenotypes. "If our findings hold true across a larger population of [hypertrophic cardiomyopathy] patients," they add, "this would provide new opportunities for novel therapeutic interventions that broadly target the obstructive [hypertrophic cardiomyopathy] phenotype rather than specific genotypes."

A team from Yale University, the National University of Singapore, and Massachusetts General Hospital takes a look at potential ties between gene expression, genetic susceptibility, brain function, imaging-based cortical anatomy, and other features in individuals with major depressive disorder (MDD). Starting with imaging data for more than 23,700 individuals assessed through three large population studies, the researchers incorporated cortical gene expression patterns, transcriptional profiles from post-mortem MDD samples, results from a MDD genome-wide association study, and single-cell gene expression data to search for molecular markers for brain features evaluated by imaging. "These data identify transcripts, cell types, and molecular processes associated with neuroimaging markers of depression," they report, "and offer a roadmap for integrating in vivo clinical imaging with genetic and post-mortem patient transcriptional data."

A Spanish team shares evidence for a SARS-CoV-2 infection in a cat. The four-year-old pet belonged to an individual who died from an RT-PCR-confirmed COVID-19 infection, the investigators write, and a relative of the patient brought the domestic cat to the vet with respiratory symptoms, severe shortness of breath, and low blood platelet levels. The animal was ultimately diagnosed with feline hypertrophic cardiomyopathy, pulmonary edema, and thrombosis, they note, though post-mortem RT-PCR testing and viral RNA sequencing revealed SARS-CoV-2 virus in the cat's nasal swab and lymph node samples. "[I]t was concluded that the cause of death of the studied cat was unrelated to the novel coronavirus," the authors report, though they note that "it would be important to ascertain whether SARS-CoV-2 infection may be able to worsen already existing disorders in cats and other animal species."