Evaluation of protein expression and oxidative stress index in Duchenne muscular dystrophy

The severe, degenerative muscle condition known as Duchenne Muscular Dystrophy (DMD) typically manifests in early childhood.

This study aims to investigate how DMD cases express the genes for Ewing's Tumor-associated Antigen 1 (ETAA1), Topoisomerase IIβ-binding protein 1 (TOPBP1), and ATR (Ataxia Telangiectasia and Rad3-related).

A total of 50 ambulatory male patients with DMD attending pediatric neurology clinic at Menoufia University Hospital were included and compared to 25 healthy control males matched for age. General clinical information, neurological information, and laboratory tests were performed. This included measuring serum levels of creatine phosphokinase CPK, human creatine kinase, muscle (CK-mm), human lactate dehydrogenase (LDH), total antioxidant status (TAS), total oxidant status (TOS), and quantitative expression of the genes ETAA1, TOPBP1, and ATR.

In contrast to those in good health, the expression levels of the ETAA1, TOPBP1, and ATR genes were significantly greater in DMD cases. Additionally blood levels of CPK, CK-mm, LDH, and TOS were significantly higher in DMD than those of healthy individuals.

The gene expression of ETAA1, TOPBP1, and ATR is substantially elevated in cases with severe DMD, making them potentially significant indicators of the severity of DMD cases.

This study evaluates the expression of DNA damage response genes-ETAA1, TOPBP1, and ATR-in patients with Duchenne Muscular Dystrophy (DMD). The results demonstrate that DMD patients have much greater gene expression levels and oxidative stress indicators than healthy controls. These genes show a favorable correlation with clinical severity indicators such as CKMM, CPK, and LDH. Combining the three markers improves diagnostic sensitivity and specificity, indicating their potential as a multi-gene biomarker panel. The findings shed fresh light on DMD etiology by correlating genomic instability to disease progression and identifying possible molecular targets for early detection and future treatment approaches.