MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy

Pegoraro, Valentina; Missaglia, Sara; Marozzo, Roberta; Tavian, Daniela; Angelini, Corrado

doi:10.1002/mus.26761

Cited by 12 publications

(8 citation statements)

References 31 publications

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“…Total RNA was extracted from 400 μL of serum samples with the miRNeasy Mini Kit (Qiagen, Hilden, Germany), as recommended by the manufacturer. After the addition of QIAzol Lysis reagent and the incubation with chloroform, 10 µL of 5 nM of miR-39-3p of C. elegans was added, as previously described [ 29 ].…”

Section: Methodsmentioning

confidence: 99%

Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies

Pegoraro

Angelini

2021

Genes

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Limb-girdle muscular dystrophies (LGMD) are clinically and genetically heterogeneous conditions, presenting with a wide clinical spectrum, leading to progressive proximal weakness caused by loss of muscle fibers. MiR-206 is a member of myomiRNAs, a group of miRNAs with important function in skeletal muscle. Our aim is to determine the value of miR-206 in detecting muscle disease evolution in patients affected by LGMD. We describe clinical features, disease history and progression of eleven patients affected by various types of LGMD: transportinopathy, sarcoglycanopathy and calpainopathy. We analyzed the patients’ mutations and we studied the circulating miR-206 in serum by qRT-PCR; muscle MRI was done with a 1.5 Tesla apparatus. The severe evolution of disease type is associated with the expression levels of miR-206, which was significantly elevated in our LGMD patient cohort in comparison with a control group. In particular, we observed an over-expression of miR-206 that was 50–80 folds elevated in two patients with a severe and early disease course in the transportinopathy and calpainopathy sub-types. The functional impairment was observed clinically and muscle loss and atrophy documented by muscle MRI. This study provides the first evidence that miR-206 is associated with phenotypic expression and it could be used as a prognostic indicator of LGMD disease progression.

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Section: Methodsmentioning

confidence: 99%

Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies

Pegoraro

Angelini

2021

Genes

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“…The filtered supernatants were centrifuged with Beckman–Coulter ultracentrifuge at 120,000 g for 70 min at 4 °C and the pellets, containing the exosomes, stored at −80 °C. MiR-1, miR-206, miR-133a and 133b were isolated and analyzed as previously described [ 23 ].…”

Section: Methodsmentioning

confidence: 99%

Morphological study of TNPO3 and SRSF1 interaction during myogenesis by combining confocal, structured illumination and electron microscopy analysis

et al. 2021

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Transportin3 (TNPO3) shuttles the SR proteins from the cytoplasm to the nucleus. The SR family includes essential splicing factors, such as SRSF1, that influence alternative splicing, controlling protein diversity in muscle and satellite cell differentiation. Given the importance of alternative splicing in the myogenic process and in the maintenance of healthy muscle, alterations in the splicing mechanism might contribute to the development of muscle disorders. Combining confocal, structured illumination and electron microscopy, we investigated the expression of TNPO3 and SRSF1 during myogenesis, looking at nuclear and cytoplasmic compartments. We investigated TNPO3 and its interaction with SRSF1 and we observed that SRSF1 remained mainly localized in the nucleus, while TNPO3 decreased in the cytoplasm and was strongly clustered in the nuclei of differentiated myotubes. In conclusion, combining different imaging techniques led us to describe the behavior of TNPO3 and SRSF1 during myogenesis, showing that their dynamics follow the myogenic process and could influence the proteomic network necessary during myogenesis. The combination of different high-, super- and ultra-resolution imaging techniques led us to describe the behavior of TNPO3 and its interaction with SRSF1, looking at nuclear and cytoplasmic compartments. These observations represent a first step in understanding the role of TNPO3 and SRFSF1 in complex mechanisms, such as myogenesis.

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“…Briefly, 5 µL of total RNA of each sample was first subjected to a reverse transcription reaction to obtain cDNAs, subsequently, real-time polymerase chain reaction (qRT-PCR) was performed using the CFX96™ Real-Time PCR Detection System (Biorad, Hercules, CA, USA), along with specific TaqMan MicroRNA Assay (Thermo Fisher Scientific, Waltham, MA, USA) ( Table S1). The expression level of each miRNA was normalized to average levels of miR-16, U6 snRNA, and miR-39-3p of Caenorhabditis elegans, the first two were used as endogenous controls, while the last as spike-in miRNA as previously described [25]. Data were obtained by triplicate experiments.…”

Section: Micrornas Methodsmentioning

confidence: 99%

MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy

2020

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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.

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MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy

Cited by 12 publications

References 31 publications

Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies

Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies

Morphological study of TNPO3 and SRSF1 interaction during myogenesis by combining confocal, structured illumination and electron microscopy analysis

MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy

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