Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights.

Biomarkers High-Throughput Nucleotide Sequencing Humans MicroRNAs / genetics Muscular Dystrophies / diagnosis Myotonic Dystrophy
NGS Small RNAs biomarkers miRNAs muscular dystrophies

Journal

RNA biology
ISSN: 1555-8584
Titre abrégé: RNA Biol
Pays: United States
ID NLM: 101235328

Informations de publication

Date de publication:
2022
Historique:
entrez: 7 4 2022
pubmed: 8 4 2022
medline: 9 4 2022
Statut: ppublish

Résumé

Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some of the members of this family of disorders. In addition to the current diagnostic tools, there is an increasing interest for the development of novel non-invasive biomarkers for the diagnosis and monitoring of these diseases. miRNAs are small RNA molecules characterized by high stability in blood thus making them ideal biomarker candidates for various diseases. In this study, we present the first genome-wide next-generation small RNA sequencing in serum samples of five different types of muscular dystrophy patients and healthy individuals. We identified many small RNAs including miRNAs, lncRNAs, tRNAs, snoRNAs and snRNAs, that differentially discriminate the muscular dystrophy patients from the healthy individuals. Further analysis of the identified miRNAs showed that some miRNAs can distinguish the muscular dystrophy patients from controls and other miRNAs are specific to the type of muscular dystrophy. Bioinformatics analysis of the target genes for the most significant miRNAs and the biological role of these genes revealed different pathways that the dysregulated miRNAs are involved in each type of muscular dystrophy investigated. In conclusion, this study shows unique signatures of small RNAs circulating in five types of muscular dystrophy patients and provides a useful resource for future studies for the development of miRNA biomarkers in muscular dystrophies and for their involvement in the pathogenesis of the disorders.

Identifiants

DOI: 10.1080/15476286.2022.2058817 PMID: 35388741 PMC: PMC8993092
pubmed: 35388741
doi: 10.1080/15476286.2022.2058817
pmc: PMC8993092
doi:

Substances chimiques

Biomarkers 0
MicroRNAs 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

507-518

Subventions

Organisme : CIHR
ID : FDN-167281
Pays : Canada

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Auteurs

Andrea C Kakouri (AC)

Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Demetris Koutalianos (D)

Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Andrie Koutsoulidou (A)

Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Anastasis Oulas (A)

Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Marios Tomazou (M)

Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Department of Neurogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Nikoletta Nikolenko (N)

National Hospital for Neurology and Neurosurgery, Queen Square, University College London Hospitals NHS Foundation Trust, London, UK.

Chris Turner (C)

National Hospital for Neurology and Neurosurgery, Queen Square, University College London Hospitals NHS Foundation Trust, London, UK.

Andreas Roos (A)

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

Anna Lusakowska (A)

Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

Katarzyna Janiszewska (K)

Department of Neurology, Central Hospital of Medical University of Warsaw, Poland.

George K Papadimas (GK)

Department of Neurology, Eginitio hospital, Medical School of Athens, Athens, Greece.

Constantinos Papadopoulos (C)

Department of Neurology, Eginitio hospital, Medical School of Athens, Athens, Greece.

Evangelia Kararizou (E)

Department of Neurology, Eginitio hospital, Medical School of Athens, Athens, Greece.

Eleni Zamba Papanicolaou (EZ)

Neuroepidemiology Department, Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.

Grainne Gorman (G)

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, University of Newcastle, Newcastle, UK.

Hanns Lochmüller (H)

Division of Neurology, Department of Medicine, 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 AnálisisGenómico, Center for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology (Bist), Barcelona, Spain.

George M Spyrou (GM)

Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Leonidas A Phylactou (LA)

Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

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Classifications MeSH

questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Circulating small RNA signatures differentiate...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Circulating small RNA signatures differentiate...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Circulating small RNA signatures differentiate...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN non traduit › Petit ARN non traduit › microARN › Circulating small RNA signatures differentiate...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Dystrophies musculaires › Circulating small RNA signatures differentiate...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Dystrophies musculaires › Dystrophie myotonique › Circulating small RNA signatures differentiate...