Abstract
Becker muscular dystrophy (BMD) is an X-linked recessive disorder caused by dystrophin gene mutations. The phenotype and evolution of this muscle disorder are extremely clinical variable. In the last years, circulating biomarkers have acquired remarkable importance in their use as noninvasive biological indicators of prognosis and in monitoring muscle disease progression, especially when associated to muscle MRI imaging. We investigated the levels of circulating microRNAs (myo-miRNAs and inflammatory miRNAs) and of the proteins follistatin (FSTN) and myostatin (GDF-8) and compared results with clinical and radiological imaging data. In eight BMD patients, including two cases with evolving lower extremity weakness treated with deflazacort, we evaluated the expression level of 4 myo-miRNAs (miR-1, miR-206, miR-133a, and miR-133b), 3 inflammatory miRNAs (miR-146b, miR-155, and miR-221), FSTN, and GDF-8 proteins. In the two treated cases, there was pronounced posterior thigh and leg fibrofatty replacement assessed by muscle MRI by Mercuri score. The muscle-specific miR-206 was increased in all patients, and inflammatory miR-221 and miR-146b were variably elevated. A significant difference in myostatin expression was observed between steroid-treated and untreated patients. This study suggests that microRNAs and myostatin protein levels could be used to better understand the progression and management of the disease.
Highlights
Becker muscular dystrophy (BMD) is an X-linked recessive disorder and has an incidence of 1 in 18,518 male births [1] and a prevalence of 0.01 in South Africa, 0.1 to 0.2 in Asia, 0.1 to 0.7(per 10,000 males) in European countries [2]
This study suggests that microRNAs and myostatin protein levels could be used to better understand the progression and management of the disease
The BMD typical clinical features consist of proximal muscle wasting and weakness, high creatine kinase (CK), cramps, myalgia, myoglobinuria, mild myopathy, and cardiomyopathy with fibrosis [5]
Summary
Becker muscular dystrophy (BMD) is an X-linked recessive disorder and has an incidence of 1 in 18,518 male births [1] and a prevalence of 0.01 in South Africa, 0.1 to 0.2 in Asia, 0.1 to 0.7. (per 10,000 males) in European countries [2] It is caused by mutations of the DMD gene that encodes the muscle-specific dystrophin protein. Several studies demonstrated that the serum levels of myo-miRs are increased in DMD and BMD patients [21]. Another common feature of muscular dystrophy is the inflammatory response that triggers a cascade of inflammatory cytokines and subsequently miRNAs induction. We examined the serum levels of myo-miRNAs (miR-1, miR-206 and miR-133), inflammatory miRNAs (miR-146b, miR-155 and miR-221), and plasma follistatin and myostatin in eight long-standing monitored BMD patients, two of which were treated with deflazacort. To establish a correlation between the clinical changes observed by MRI and the selected circulating biomarkers
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
