Year: 2025
Type: article
Study design: Observational Study
Abstract: Beals-Hecht (BH) syndrome is a rare autosomal dominant disorder caused by a mutation of the FBN-2 gene that codifies for fibrillin-2 (FBN-2) and its nosology includes congenital contractural arachnodactyly. The aim of this 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 control 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, TrxR, SOD isoforms, catalase and peroxidases were decreased (p ≤ 0.04) and the OS markers NO3−/NO2−, TAC and thiols were decreased (p ≤ 0.04). The results suggest a possible loss of redox homeostasis; this loss could be due to the decrease of some enzymes of the enzymatic antioxidant system and some antioxidants of the non-enzymatic system. In addition, the decrease in TrxR activity and the concentration of thiol groups could contribute to the alteration and instability of the FBN-2 protein.
Source: Scientific Reports
Institution: Instituto Nacional de Cardiología
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,690
OpenAlex ID: W4410826769