Abstract Details

Title Myo-MiRNAs ,Myostatin as Biomarkers for Becker Muscular Dystrophy.

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) Neuromuscular and Clinical Neurophysiology (EMG) Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 010

Objective

To examine the serum levels of myomiRNAs (miR-1; miR-206; miR-133), inflammatory miRNAs (miR-146b; miR-155; miR-221) and plasma follistatin and myostatin in a series of long-standing monitored BMD patients, two of them treated with deflazacort,we tried to establish a correlation between the clinical changes observed by MRI and circulating biomarkers.

Background Becker muscular dystrophy (BMD) is an X-linked recessive disorder due to a mutation of the DMD gene that encodes the muscle dystrophin protein. The pivotal function of dystrophin is to link the cytoskeletal actin and dystrophin-associated protein complex to the extracellular matrix in order to stabilize the sarcolemma . Some mutations of dystrophin compromise binding at the sarcolemma and cause a specific sequence of muscle abnormalities such as reactive macrophagic inflammation, muscle necrosis altered mitochondrial metabolism, disruption of sarcolemma.

Design/Methods

We enrolled 8 BMD patients (aged 14-46) with confirmed mutations in the dystrophin gene. All patients had preserved the ability to walk, two of them were treated with deflazacort in alternate day regime for several years and were followed for a prolonged period of over 15 years after diagnosis. A control group was formed by healthy subjects matched for sex and age to patients.

BMD patients and controls underwent peripheral blood venous puncture, their serum and plasma were collected and stored at -80°C in Biobank of the Neuromuscular Center until use.

Results Our data revealed that the muscle-specific miR-206 was increased in all BMD patients. Likewise, miRNAs associated with inflammation (miR-221 and miR-146b) were variably elevated in BMD patients. We also investigated the fibro-fatty replacement by muscle MRI, using Mercuri staging.

Conclusions

The most striking differences in myostatin expression were between patients treated with steroids and untreated patients.This study suggests that microRNAs and myostatin protein could be used to better understand the progression and management of the disease.

Authors/Disclosures
PRESENTER	No disclosure on file
	No disclosure on file
Corrado Angelini, MD, F�鶹��ýӳ�� (Università Di Padova)	Dr. Angelini has nothing to disclose.

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