Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies
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...
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MDPI AG
2021-01-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/1/85 |
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| author | Valentina Pegoraro Corrado Angelini |
| author_facet | Valentina Pegoraro Corrado Angelini |
| author_sort | Valentina Pegoraro |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T05:06:04Z |
| format | Article |
| id | doaj.art-7c60aff642024b67aadb2fa38bfd04ad |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T05:06:04Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
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| series | Genes |
| spelling | doaj.art-7c60aff642024b67aadb2fa38bfd04ad2023-12-03T12:54:14ZengMDPI AGGenes2073-44252021-01-011218510.3390/genes12010085Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle DystrophiesValentina Pegoraro0Corrado Angelini1IRCCS San Camillo Hospital, Via Alberoni 70, 30126 Venice, ItalyIRCCS San Camillo Hospital, Via Alberoni 70, 30126 Venice, ItalyLimb-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.https://www.mdpi.com/2073-4425/12/1/85LGMDmiR-206myomiRNAsbiomarkerstransportinopathysarcoglycanopathy |
| spellingShingle | Valentina Pegoraro Corrado Angelini Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies Genes LGMD miR-206 myomiRNAs biomarkers transportinopathy sarcoglycanopathy |
| title | Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies |
| title_full | Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies |
| title_fullStr | Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies |
| title_full_unstemmed | Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies |
| title_short | Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies |
| title_sort | circulating mir 206 as a biomarker for patients affected by severe limb girdle muscle dystrophies |
| topic | LGMD miR-206 myomiRNAs biomarkers transportinopathy sarcoglycanopathy |
| url | https://www.mdpi.com/2073-4425/12/1/85 |
| work_keys_str_mv | AT valentinapegoraro circulatingmir206asabiomarkerforpatientsaffectedbyseverelimbgirdlemuscledystrophies AT corradoangelini circulatingmir206asabiomarkerforpatientsaffectedbyseverelimbgirdlemuscledystrophies |