Expanding the understanding of BRCA1 mutations in cancer
Many women with a family history of breast and/or ovarian cancer are undergoing testing for mutations in the gene BRCA1. But oftentimes, those tests show “variants of unknown significance,” or mutations that are not well enough understood to determine whether or not they raise cancer risk. So scientists at the University of Washington School of Medicine decided to address that problem by using CRISPR gene editing to engineer 4,000 mutations into the BRCA1 gene. Then they studied each mutation separately to see if it caused cancer-related problems in human cells. They published their findings in the journal Nature and are making them publicly available in a database. The technique, called “saturation gene editing,” could be applied to other cancer-risk genes, they said. (Release)
Connecting genes with blood pressure
High blood pressure often runs in families, but many of the genes that are involved have not yet been identified. Scientists at Queen Mary University of London and Imperial College London believe they’ve tripled the number of known gene regions involved in blood pressure by identifying 500 such regions. They did it by analyzing the DNA of one million people and cross-referencing it with information about blood pressure. By comparing the highest-risk patients with those who faced the lowest risk, they determined which genetic variants are associated with having a 3.34 times higher risk of hypertension and a 1.52 times increased risk of cardiovascular events. They published the study in the journal Nature Genetics. (Release)
New insight into oxygen transport could inform treatment of anemia, asthma and more
Heme is a sticky molecule in cells that’s essential for carrying oxygen and other gasses into cells. A team at the Cleveland Clinic has discovered a protein that helps chaperone heme around the body: glyceraldehyde 3-phosphate dehydrogenase (GAPDH). It’s a common enzyme that’s known for its ability to break down sugar in cells. The knowledge that GAPDH also delivers heme could enhance the search for new treatments for diseases related to oxygen transport, such as anemia and asthma, the researchers believe. The research appears in the Journal of Biological Chemistry. (Release)