The most comprehensive international collaborative analysis to date of the impact of variants on gene expression has revealed thousands of previously unknown regulatory genomic regions controlling disease-linked genes, representing a major advance in genomics-driven precision medicine.

In studies that give new insights into both developmental biology and the origins of melanoma, investigators at Memorial Sloan-Kettering Cancer Center and Weill Cornell Medical College have identified the activity of chromatin remodeling protein ATAD2 as necessary for cells with the oncogenic mutation V600E to give rise to melanomas. Involvement of epigenetic factors in cancers, or their targeting, is not new in cancer – as HDAC inhibitors as well as newer drugs such as the EZH2 inhibitor Tazverik (tazemetostat, Epizyme Inc.) demonstrate. But to Richard White and his colleagues, the point of their work is not so much about individual targets.

In studies that give new insights into both developmental biology and the origins of melanoma, investigators at Memorial Sloan-Kettering Cancer Center and Weill Cornell Medical College have identified the activity of chromatin remodeling protein ATAD2 as necessary for cells with the oncogenic mutation V600E to give rise to melanomas.

A new Drosophila melanogaster larval model recapitulates key aspects of tumor-induced cachexia, including muscle wasting, loss of tissue integrity and lipid mobilization, the authors of a multicenter Australian study reported in the September 1, 2021, online edition of Developmental Cell.

More than half of cancers have mutations in the transcription factor p53, making p53 one of the most frequently mutated genes in solid tumors.

Women with endometriosis may be closer to finding relief from chronic inflammation and acute pain during menstruation after a group of international researchers have uncovered a new nonhormonal treatment target, neuropeptide S receptor 1.

A study led by researchers at Tsinghua University in Beijing has elicited the mechanism whereby the protein leucine-rich repeat kinase 2 prevents alveolar type II epithelial cell dysfunction, limiting profibrotic responses during progression of pulmonary fibrosis.

Investigators at MIT have identified a protein capable of delivering its own mRNA to cells, and engineered that protein to deliver mRNA sequences of their choosing. In a mouse model, the team used their approach to deliver the mRNA for two different proteins.

In Cell Metabolism, researchers working at the University of Texas Southwestern Medical Center reported that when fat cells (adipocytes) are chronically stressed, as is characteristic of obesity, they can release small vesicle exosomes that are respiration-competent and essentially portions of mitochondria.

Researchers from Denali Therapeutics Inc. have identified new functional links between progranulin, lysosomal function, and a subtype of frontotemporal dementia caused by progranulin deficiency (FTD-GRN) that suggest progranulin-mediated FTD could be conceptualized as a lysosomal storage disorder (LSD). They also showed that delivery of their experimental therapeutic PTV:PGRN, also known as DNL-593, reduced cell damage and symptoms of FTD in cell and animal models.