Newborn screening for Duchenne muscular dystrophy gains support

Research Implications Voss’s findings are important because they point to a mechanism at play in more severe disease, says Paula Goldenberg, MD, Assistant Professor in the University of Cincinnati School of Medicine’s Department of Pediatrics in Ohio. “Histone acetylates like MOZ may have something to do with it,” Dr. Goldenberg says. “If we know the mechanism for more severe disease, we may determine for parents whether or not their children might be at risk for the more severe phenotype.” Previous research has found that common mutations in Tbx1 do not explain variable cardiovascular expression in more than 1,000 patients with 22q11 deletion. Instead, studies have implicated the existence of modifiers in other genes on 22q11, and elsewhere in the genome (Guo et al., 2011). In contrast, Dr. Voss’s paper suggests new pathways to examine, says Bernice Morrow, PhD, Director of the Division of Translational Genetics at Yeshiva University’s Albert Einstein College of Medicine in New York. “The connection between MOZ and retinoic acid—that a MOZ mutation sensitizes an embryo to retinoic acid—is as interesting as the interaction between MOZ and Tbx1 because it’s an environmental factor,” adds Dr. Morrow. “People want to know: Could alterations in genes or their expression increase sensitivity to environmental exposure? That’s what this paper implies. We all know environment can play a role in congenital heart disease. This paper connects MOZ activity to the environment.” However, any future research that better explains the link would need to be proven in humans to have any clinical relevance, Dr. Morrow points out. “This paper won’t help a child with DiGeorge syndrome right now, but it’s a tool for understanding how environmental signals can regulate genes,” she adds.