by Amy Colgan, The Ohio State University Fig. 1: In vitro studies of mdx4cv mutation correction using ABE-NG. From: Efficient precise in vivo base editing in adult dystrophic mice a Genomic DNA, encoded amino acids and guide RNA with PAM (highlighted in blue) sequences at the stop codon mutation site (red). b The reporter construct contains...
ESTONIAN RESEARCH COUNCIL IMAGE: PROFESSOR OF CLINICAL GENETICS OF THE UNIVERSITY OF TARTU KATRIN ÕUNAP. CREDIT: UNIVERSITY OF TARTU In about a quarter of patients with hereditary diseases, the cause of the disease remains unclear even after extensive genetic testing. One reason is that we still do not know enough about the function of many genes. Of...
by UT Southwestern Medical Center In a mouse model and in human heart muscle cells, researchers used gene editing to modify specific DNA sequences and restore dystrophin production in mutant dystrophin genes. Credit: UT Southwestern Medical Center UT Southwestern scientists successfully employed a new type of gene therapy to treat mice with Duchenne muscular dystrophy (DMD),...
by UT Southwestern Medical Center Histopathology of gastrocnemius muscle from patient who died of pseudohypertrophic muscular dystrophy, Duchenne type. Cross section of muscle shows extensive replacement of muscle fibers by adipose cells. Credit: Public Domain A UT Southwestern research team has cataloged gene activity in the skeletal muscle of mice, comparing healthy animals to those carrying a genetic...
Created using synthetic DNA, viltolarsen is an excellent example of precision medicine. A University of Alberta researcher’s past work has led to a new drug being approved for use in the United States to treat patients suffering from Duchenne muscular dystrophy (DMD). The drug, viltolarsen, was approved for use in Japan earlier this year and...
Adolescents who have poor cardiorespiratory fitness or are obese have an increased risk of developing cardiovascular disease later in life, serious enough to qualify them for disability pension due to a chronically reduced work capacity. The findings also suggest that a small improvement in fitness is associated with a lower risk. “In the study, we...
by Jessica Sinclair, University of Ottawa When an actor is unable to perform in the theatre, an understudy—ideally one with some practice in the role—can take her place on stage. A study from Dr. Bernard Jasmin’s laboratory at the University of Ottawa and published today in Nature Communications shows that the same is true of...
by Autonomous University of Barcelona A study led by the IBB-UAB has identified the molecular mechanism through which a protein carrying genetic mutations associated with limb-girdle muscular dystrophy type 1G accelerates its tendency to form amyloid fibrils and triggers the appearance of the disease. The research, published in Cell Reports, will pave the way for...
New Cornell-led research has found a strong connection between DNA damage triggered by mutations in proteins that surround the cell nucleus, known as lamins, and muscular dystrophy. By exploring the mechanisms that cause the damage, the researchers are hopeful their discovery can help shape better treatments. The team’s paper, “Mutant Lamins Cause Nuclear Envelope Rupture...
by Perelman School of Medicine at the University of Pennsylvania A gene therapy being developed at Penn Medicine to treat Duchenne muscular dystrophy (DMD) successfully and safely stopped the severe muscle deterioration associated with the rare, genetic disease in both small and large animal models, according to a first-of-its-kind study from Penn Medicine researchers. The...
