Repetitive genetic sequences can be blocked in animal models, researchers find

In patients with myotonic dystrophy and related genetic diseases, abnormally long, repetitive DNA sequences lead to a host of problems in the muscle, heart and brain. Now, a group of UF Health researchers has found a way to block the transcription of those dysfunctional genetic sequences into RNA in human cells and mouse models. Using a deactivated bacterial enzyme, the researchers were able to reduce levels of the repeating RNA sequences that cause two types of myotonic dystrophy and amyotrophic lateral sclerosis. The enzyme, known as dCas9, works by binding directly to the repetitive sequences and halting production of toxic RNA. — Doug Bennett

UF clinical trial tests efficacy of drug to treat a rare, often deadly childhood disease

A UF researcher has begun a Phase III clinical trial to assess a drug therapy for the rare childhood disease pyruvate dehydrogenase complex deficiency. The disease, caused by a genetic mutation, interferes with the cell’s ability to produce energy. Peter W. Stacpoole, M.D., Ph.D., a professor of medicine, biochemistry and molecular biology in the UF College of Medicine, is assessing the effectiveness of a drug treatment developed from a molecule called dichloroacetate that stimulates residual activity in a critical enzyme, allowing the cell to produce additional energy. — Bill Levesque

Human liver protein reduces age-related inflammation in animal, human cell models

A protein produced by the liver significantly reduces the chronic, low-grade inflammation that may contribute to aging and aging-related diseases, UF Health researchers have found. Using human cell and fruit fly models, they showed the protein human alpha-1 antitrypsin has anti-inflammatory and cell-protecting properties. That makes the protein particularly effective at stopping so-called “inflammaging,” the ongoing inflammation that has been implicated in aging-related disorders such as cardiovascular disease, Type 2 diabetes and osteoporosis. Fruit flies that had the human protein-producing gene inserted lived significantly longer and survived in greater numbers than those that were untreated.
— Doug Bennett