Serum miRNAs as biomarkers for the rare types of muscular dystrophy.

Biomarkers / blood Humans MicroRNAs / blood Muscular Dystrophies, Limb-Girdle / blood Muscular Dystrophy, Facioscapulohumeral / blood Myotonic Dystrophy / blood
Biomarkers DM2 FSHD1 LGMD2A Serum miRNAs

Journal

Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470

Informations de publication

Date de publication:
04 2022
Historique:
received: 05 05 2021
revised: 02 02 2022
accepted: 07 03 2022
pubmed: 9 4 2022
medline: 29 4 2022
entrez: 8 4 2022
Statut: ppublish

Résumé

Muscular dystrophies are a group of disorders that cause progressive muscle weakness. There is an increasing interest for the development of biomarkers for these disorders and specifically for Duchene Muscular Dystrophy. Limited research however, has been performed on the biomarkers' development for the most rare muscular dystrophies, like the Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy and Myotonic Dystrophy type 2. Here, we aimed to identify novel serum-based miRNA biomarkers for these rare muscular dystrophies, through high-throughput next-generation RNA sequencing. We identified many miRNAs that associate with muscular dystrophy patients compared to controls. Based on a series of selection criteria, the two best candidate miRNAs for each of these disorders were chosen and validated in a larger number of patients. Our results showed that miR-223-3p and miR-206 are promising serum-based biomarkers for Facioscapulohumeral Muscular Dystrophy type 1, miR-143-3p and miR-486-3p for Limb-Girdle Muscular Dystrophy type 2A whereas miR-363-3p and miR-25-3p associate with Myotonic Dystrophy type 2. Some of the identified miRNAs were significantly elevated in the serum of the patients compared to controls, whereas some others were lower. In conclusion, we provide new evidence that certain circulating miRNAs may be used as biomarkers for three types of rare muscular dystrophies.

Identifiants

DOI: 10.1016/j.nmd.2022.03.003 PMID: 35393236
pubmed: 35393236
pii: S0960-8966(22)00067-0
doi: 10.1016/j.nmd.2022.03.003
pii:
doi:

Substances chimiques

Biomarkers 0
MIRN206 microRNA, human 0
MIRN363 microRNA, human 0
MicroRNAs 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

332-346

Subventions

Organisme : CIHR
ID : FDN-167281
Pays : Canada

Informations de copyright

Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest None.

Auteurs

Andrie Koutsoulidou (A)

Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus.

Demetris Koutalianos (D)

Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus.

Kristia Georgiou (K)

Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus.

Andrea C Kakouri (AC)

Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Department of Neurogenetics, The Cyprus Institute of Neurology and Genetics, P.O. Box 2346, Nicosia 1683, Cyprus.

Anastasis Oulas (A)

Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus.

Marios Tomazou (M)

Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Department of Neurogenetics, The Cyprus Institute of Neurology and Genetics, P.O. Box 2346, Nicosia 1683, Cyprus.

Tassos C Kyriakides (TC)

Yale Center for Analytical Sciences, Yale School of Public Health, 300 George Street, Suite 555, New Haven CT 06520, United States.

Andreas Roos (A)

Department of Neuropediatrics, University Hospital Essen, Duisburg-Essen University, Germany; Childrens Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

George K Papadimas (GK)

Department of Neurology, Eginitio hospital, Medical School of Athens, 74 Vasilissis Sofias, Athens 11528, Greece.

Constantinos Papadopoulos (C)

Department of Neurology, Eginitio hospital, Medical School of Athens, 74 Vasilissis Sofias, Athens 11528, Greece.

Evangelia Kararizou (E)

Department of Neurology, Eginitio hospital, Medical School of Athens, 74 Vasilissis Sofias, Athens 11528, Greece.

George M Spyrou (GM)

Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus.

Eleni Zamba Papanicolaou (E)

Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Electromyography (EMG) Laboratory, The Cyprus Institute of Neurology and Genetics, P.O. Box 2346, Nicosia 1683, Cyprus.

Hanns Lochmüller (H)

Childrens Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada; Centro Nacional de Análisis Genómico, Center for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain.

Leonidas A Phylactou (LA)

Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus. Electronic address: laphylac@cing.ac.cy.

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Classifications MeSH

questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Serum miRNAs as biomarkers for the rare types...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Serum miRNAs as biomarkers for the rare types...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN non traduit › Petit ARN non traduit › microARN › Serum miRNAs as biomarkers for the rare types...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Dystrophies musculaires › Dystrophies musculaires des ceintures › Serum miRNAs as biomarkers for the rare types...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Dystrophies musculaires › Dystrophie musculaire facio-scapulo-humérale › Serum miRNAs as biomarkers for the rare types...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Dystrophies musculaires › Dystrophie myotonique › Serum miRNAs as biomarkers for the rare types...