Possible Redox Homeostasis Break-Down in Beals-Hecht Syndrome. Preliminary Findings

Beals-Hecht (BH) syndrome is a rare autosomal dominant disorder caused by a mutation of the FBN2 gene that codifies for fibrillin-2 (FBN-2) and part of its nosology is congenital contractural arachnodactyly. There is no information in the literature on whether there is increased oxidative stress (OS) in these patients that could lead to a break-down in the redox balance. Therefore, the aim of this preliminary study was to evaluate the possible breakdown of redox homeostasis in the thoracic aortic aneurysm (TAA) in BH. We determinate OS markers such as malondialdehyde (MDA), total antioxidant capacity (TAC), carbonyl groups, glutathione (GSH), thiols and the nitrate/nitrite ratio (NO3−/NO2−) by spectrophotometry in homogenized TAA from controls subjects (CS) and BH. We also measured the activities of some of antioxidant enzymes such as GST, GPx, GR and TrxR. The super oxide dismutase (SOD) isoforms, catalase and peroxidase activities were evaluated by native polyacrylamide gels. The activities of the antioxidant enzymes GPx and TrxR were decreased (p≤0.04) and the OS markers NO3−/NO2−, TAC and thiols groups were decreased (p≤0.04). The results suggest an intricate system in the loss of redox homeostasis in BH syndrome patients that could contribute to the FBN2 instability.