Serum titin/creatinine ratio as a biomarker for discriminating disease severity in Duchenne and Becker muscular dystrophies.

ABSTRACT:

Introduction

Duchenne/Becker muscular dystrophies (DMD/BMD) are inherited muscle diseases, collectively referred to as dystrophinopathy, which are characterized by progressive degeneration or loss. Although serum creatine kinase (CK) is a classical biomarker of DMD and BMD, it alone cannot clearly differentiate between severe DMD and milder BMD. Among potential biomarkers, the levels of the fragmented products of titin, a structural muscle protein, may directly reflect the degree of muscle loss in DMD and BMD. Therefore, this study measured the serum titin/creatinine (Cr) ratio and evaluated its discriminatory ability in patients with DMD and BMD.

Methods

The patients with dystrophinopathy and healthy controls were included in this study. Patients were classified by the read

SUBMITTER: Nambu Y 

PROVIDER: S-EPMC12283318 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature