In Science Translational Medicine this week, a team of researchers from Harvard Medical School and Massachusetts General Hospital publish the first study to use PET imaging to visualize epigenetic activity in the living human brain. To perform their study, the investigators created an imaging probe that selectively binds to certain members of the HDAC family of epigenetic enzymes the brain. They tested the probes in eight healthy volunteers and found that the enzymes are highly expressed in the brain, with significant differences in expression in gray and white matter. In experiments involving human stem cell-derived neural progenitor cells, the researchers showed that the probe bound to HDACs targeting genes involved in memory and neuroplasticity.
Also in Science Translational Medicine, a Johns Hopkins University-led group reports the identification of a gene mutation that appears to make certain patients with lung disease more susceptible to premature aging. For their study, the researchers sequenced the genomes of patients with hereditary pulmonary fibrosis-emphysema, uncovering rare variants in a gene involved in RNA biogenesis. Experiments in patient-derived cells and a mouse model showed that the mutations affect telomere length and levels of the enzyme telomerase — both of which are associated with aging and age-related disease.