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article · Pediatric Research

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

2026Open accessMenoufia University

Abstract

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.

Research topics

  • Muscle Physiology and Disorders
  • Biotin and Related Studies
  • Genetic Neurodegenerative Diseases

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DOI: 10.1038/s41390-025-04585-x

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