Stem cell study illuminates the cause of an inherited heart disorder
Scientists in the Perelman School of Medicine have uncovered the molecular causes of a congenital form of dilated cardiomyopathy (DCM), an often-fatal heart disorder.
Pictured, an iPSC-cardiomyocyte harboring an LMNA mutation. Researchers at Penn studied how mutations in LMNA impact how DNA is organized in the cell. (Image: Penn Medicine News)
This inherited form of DCM—which affects at least several thousand people in the United States at any one time and often causes sudden death or progressive heart failure—is one of multiple congenital disorders known to be caused by inherited mutations in a gene called LMNA. The LMNA gene is active in most cell types, and researchers have not understood why LMNA mutations affect particular organs such as the heart while sparing most other organs and tissues.
In a study published in Cell Stem Cell, the Penn Medicine scientists used stem cell techniques to grow human heart muscle cells containing DCM-causing mutations in LMNA. They found that these mutations severely disrupt the structural organization of DNA in the nucleus of heart muscle cells—but not two other cell types studied—leading to the abnormal activation of non-heart muscle genes.
“We’re now beginning to understand why patients with LMNA mutations have tissue-restricted disorders such as DCM even though the gene is expressed in most cell types,” says study co-senior author Rajan Jain, an assistant professor of cardiovascular medicine and cell and developmental biology at the Perelman School of Medicine.
Novel plant-based approach to a better, cheaper GLP-1 delivery system
Research led by Penn Dental’s Henry Daniell investigates the use of a lettuce-based, plant-encapsulated delivery platform as a new oral delivery of two GLP-1 drugs previously approved by the FDA in injectable form.
No brain, no gain: Neuronal activity enhances benefits of exercise
Research led by Penn neuroscientist J. Nicholas Betley and collaborators finds that hypothalamic neurons are essential for translating physical exertion into endurance, potentially opening the door to exercise-mimicking therapies.
In honor of Valentine's Day, and as a way of fostering community in her Shakespeare in Love course, Becky Friedman took her students to the University Club for lunch one class period. They talked about the movie "Shakespeare in Love," as part of a broader conversation on how Shakespeare's works are adapted.
In Becky Friedman’s English course Shakespeare in Love, undergraduate students analyze language, genre, and adaptation in the Bard’s plays through the lens of love.
Beating the heat: Designing cooling for bodies in motion
Dorit Aviv, director of Weitzman’s Thermal Architecture Lab, studies how humans, technology, and design intersect, paving the way for the development of novel approaches to cooling people efficiently.
