Editor's Note: Some of the articles described below are not yet available at the PNAS site, but they are scheduled to be posted some time this week.
In a study set to appear in the early, online edition of the Proceedings of the National Academy of Sciences this week, researchers from the US and China takes a look at the potential of using CRISPR/Cas9-mediated genome editing to reproduce features of the hereditary persistence of fetal hemoglobin (HPFH) from normal hematopoietic stem and progenitor cells — an approach they are using to try to ramp up fetal hemoglobin levels as a treatment strategy for conditions such as beta-thalassemia or sickle cell disease. The team successfully targeted the HPFH-associated deletion to nearly one-third of the cells, generating erythroid cells into expressing higher levels of beta-globin.
A team from the University of Cambridge explores the consequences of alpha-synuclein gene mutations for individuals with Parkinson's disease. The researchers took an in vitro look at single point mutations in the gene, which codes for a subunit of the amyloid fibrils that make up protein deposits called Lewy bodies in Parkinson's disease-affected nerve cells. Their results hint that such mutations influence the fibril production that takes place in the neurodegenerative condition induced by lipid vesicles. "Such a systematic study provides new insights into the influence that single amino acid replacements in [alpha-synuclein] can have on the two steps of alpha-synuclein aggregation that are likely to be crucial for disease: the initial formation of aggregates and their proliferation," they write.
Finally, researchers from the US, Netherlands, and Finland describe the collection of bacteria-infecting viral bacteriophages found in stool samples from 64 healthy individuals. Starting with deep sequencing on virus-like particles found in four stool samples from two healthy individuals, the team tracked down 70 complete phage genomes and two phage genomes that were nearly complete. Folding in sequence data for 62 more healthy individuals and 102 individuals with inflammatory bowel disease, the group narrowed in on almost two dozen bacteriophages shared across human gut phageomes for at least half of the healthy participants. The level of overlap was lower in gut phage communities from individuals with ulcerative colitis or Crohn's disease.