In Nature this week, an international team of scientists reports the whole-genome landscape of pancreatic neuroendocrine tumors (PanNETs), defining their molecular pathology and identifying genetic events characterizing their pathogenesis. The researchers performed whole-genome sequencing of 102 primary PanNETs and uncovered a number of mutational signatures, including a greater than expected number of germline mutations. Notably, many somatic mutations were found in genes involved in chromatin remodeling, DNA damage repair, activation of mTOR signaling, and telomere maintenance. Gene expression analysis, meanwhile, revealed a subgroup of tumors associated with hypoxia and HIF signaling. GenomeWeb has more on this here.
And in Nature Biotechnology, investigators from the University of California, Berkeley, publish a study demonstrating the editing of post-mitotic neurons in the adult mouse brain using Cas9 ribonucleoprotein complexes. Though Cas9 has been widely used to treat various diseases in animals, its clinical application remains limited by difficulties with tissue-specific delivery. To address this, the scientists engineered variants of Cas9 with multiple SV40 nuclear localization sequences, which led to a 10 fold increase in efficiency of neuronal editing in vivo. The results may lead to the development of Cas9-based treatments for genetic neurological disorders.