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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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Autores principales: Pegoraro, Valentina, Angelini, Corrado
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7826967/
https://www.ncbi.nlm.nih.gov/pubmed/33445560
http://dx.doi.org/10.3390/genes12010085
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author Pegoraro, Valentina
Angelini, Corrado
author_facet Pegoraro, Valentina
Angelini, Corrado
author_sort Pegoraro, Valentina
collection PubMed
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.
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spelling pubmed-78269672021-01-25 Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies Pegoraro, Valentina Angelini, Corrado Genes (Basel) Article 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. MDPI 2021-01-12 /pmc/articles/PMC7826967/ /pubmed/33445560 http://dx.doi.org/10.3390/genes12010085 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Pegoraro, Valentina
Angelini, Corrado
Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies
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 Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7826967/
https://www.ncbi.nlm.nih.gov/pubmed/33445560
http://dx.doi.org/10.3390/genes12010085
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