Open AccessMicroRNAs as serum biomarkers in Becker muscular dystrophy
Author(s) -
Gagliardi Delia,
Rizzuti Mafalda,
Brusa Roberta,
Ripolone Michela,
Zanotti Simona,
Minuti Elisa,
Parente Valeria,
Dioni Laura,
Cazzaniga Sara,
Bettica Paolo,
Bresolin Nereo,
Comi Giacomo Pietro,
Corti Stefania,
Magri Francesca,
Velardo Daniele
Publication year - 2022
Publication title -
journal of cellular and molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.44
H-Index - 130
eISSN - 1582-4934
pISSN - 1582-1838
DOI - 10.1111/jcmm.17462
Subject(s) - muscle biopsy , medicine , muscular dystrophy , cohort , context (archaeology) , microrna , dystrophin , muscle weakness , biopsy , disease , endocrinology , bioinformatics , oncology , biology , gene , genetics , paleontology
Becker muscular dystrophy (BMD) is an X‐linked neuromuscular disorder due to mutation in the DMD gene, encoding dystrophin. Despite a wide clinical variability, BMD is characterized by progressive muscle degeneration and proximal muscle weakness. Interestingly, a dysregulated expression of muscle‐specific microRNAs (miRNAs), called myomirs, has been found in patients affected with muscular dystrophies, although few studies have been conducted in BMD. We analysed the serum expression levels of a subset of myomirs in a cohort of 29 ambulant individuals affected by BMD and further classified according to the degree of alterations at muscle biopsy and in 11 age‐matched healthy controls. We found a significant upregulation of serum miR‐1, miR‐133a, miR‐133b and miR‐206 in our cohort of BMD patients, supporting the role of these miRNAs in the pathophysiology of the disease, and we identified serum cut‐off levels discriminating patients from healthy controls, confiming the potential of circulating miRNAs as promising noninvasive biomarkers. Moreover, serum levels of miR‐133b were found to be associated with fibrosis at muscle biopsy and with patients' motor performances, suggesting that miR‐133b might be a useful prognostic marker for BMD patients. Taken together, our data showed that these serum myomirs may represent an effective tool that may support stratification of BMD patients, providing the opportunity of both monitoring disease progression and assessing the treatment efficacy in the context of clinical trials.