MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A.

Action Potentials Adult Aging Biomarkers / analysis Charcot-Marie-Tooth Disease / diagnosis Computational Biology Female High-Throughput Nucleotide Sequencing Humans Male MicroRNAs / analysis Middle Aged Motor Neurons Muscle, Skeletal / physiopathology Neural Conduction Neurofilament Proteins / chemistry Peripheral Nerves / metabolism Reproducibility of Results Schwann Cells / metabolism Ulnar Nerve / physiopathology

Journal

Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060

Informations de publication

Date de publication:
03 08 2021
Historique:
received: 17 11 2020
accepted: 26 04 2021
pubmed: 26 5 2021
medline: 13 8 2021
entrez: 25 5 2021
Statut: ppublish

Résumé

To determine whether microRNAs (miRs) are elevated in the plasma of individuals with the inherited peripheral neuropathy Charcot-Marie-Tooth disease type 1A (CMT1A), miR profiling was employed to compare control and CMT1A plasma. We performed a screen of CMT1A and control plasma samples to identify miRs that are elevated in CMT1A using next-generation sequencing, followed by validation of selected miRs by quantitative PCR, and correlation with protein biomarkers and clinical data: Rasch-modified CMT Examination and Neuropathy Scores, ulnar compound muscle action potentials, and motor nerve conduction velocities. After an initial pilot screen, a broader screen confirmed elevated levels of several muscle-associated miRNAs (miR1, -133a, -133b, and -206, known as myomiRs) along with a set of miRs that are highly expressed in Schwann cells of peripheral nerve. Comparison to other candidate biomarkers for CMT1A (e.g., neurofilament light) measured on the same sample set shows a comparable elevation of several miRs (e.g., miR133a, -206, -223) and ability to discriminate cases from controls. Neurofilament light levels were most highly correlated with miR133a. In addition, the putative Schwann cell miRs (e.g., miR223, -199a, -328, -409, -431) correlate with the recently described transmembrane protease serine 5 (TMPRSS5) protein biomarker that is most highly expressed in Schwann cells and also elevated in CMT1A plasma. These studies identify a set of miRs that are candidate biomarkers for clinical trials in CMT1A. Some of the miRs may reflect Schwann cell processes that underlie the pathogenesis of the disease. This study provides Class III evidence that a set of plasma miRs are elevated in patients with CMT1A.

Identifiants

DOI: 10.1212/WNL.0000000000012266 PMID: 34031204 PMC: PMC8356381
pubmed: 34031204
pii: WNL.0000000000012266
doi: 10.1212/WNL.0000000000012266
pmc: PMC8356381
doi:

Substances chimiques

Biomarkers 0
MicroRNAs 0
Neurofilament Proteins 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e489-e500

Subventions

Organisme : NICHD NIH HHS
ID : P50 HD105353
Pays : United States
Organisme : NCATS NIH HHS
ID : R21 TR003034
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS065712
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD090256
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

© 2021 American Academy of Neurology.

Références

Nat Med. 2014 Sep;20(9):1055-61
pubmed: 25150498
Hum Mol Genet. 2019 Nov 1;28(21):3528-3542
pubmed: 31411673
Cell. 1991 Jul 26;66(2):219-32
pubmed: 1677316
Science. 2009 Dec 11;326(5959):1549-54
pubmed: 20007902
Nat Commun. 2015 Oct 14;6:8584
pubmed: 26466203
Nucleic Acids Res. 2020 Jan 8;48(D1):D148-D154
pubmed: 31647101
PLoS One. 2013 Jun 11;8(6):e65868
pubmed: 23776562
Neurology. 2018 Sep 18;91(12):e1125-e1129
pubmed: 30120135
Hum Mol Genet. 2019 Apr 15;28(8):1260-1273
pubmed: 30535360
Orphanet J Rare Dis. 2014 Dec 10;9:201
pubmed: 25491744
J Clin Invest. 2018 Jan 2;128(1):359-368
pubmed: 29202483
Ann Clin Transl Neurol. 2019 Jul;6(7):1292-1301
pubmed: 31353867
Neuromuscul Disord. 2018 Jun;28(6):502-507
pubmed: 29729827
Bioessays. 2015 May;37(5):502-13
pubmed: 25707700
Glia. 2009 Sep;57(12):1265-79
pubmed: 19170179
J Neurosci. 2011 Nov 30;31(48):17358-69
pubmed: 22131398
Lancet Neurol. 2016 Jan;15(1):65-77
pubmed: 26549782
Ann Neurol. 2019 Jun;85(6):887-898
pubmed: 30945774
J Peripher Nerv Syst. 2011 Sep;16(3):191-8
pubmed: 22003934
J Peripher Nerv Syst. 2014 Sep;19(3):192-6
pubmed: 25400013
Nat Med. 2003 Dec;9(12):1533-7
pubmed: 14608378
J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952
pubmed: 28860329
Ann Clin Transl Neurol. 2020 Jan;7(1):69-82
pubmed: 31833243
Mol Med Rep. 2017 Sep;16(3):2417-2424
pubmed: 28677735
Brain Res. 2020 Jan 1;1726:146491
pubmed: 31586623
Biochem Soc Trans. 2013 Aug;41(4):944-50
pubmed: 23863161
Neurology. 2018 Feb 6;90(6):e518-e524
pubmed: 29321234
Sci Rep. 2016 Jun 21;6:28097
pubmed: 27323895
Clin Chem. 2015 Nov;61(11):1343-53
pubmed: 26408531
Orphanet J Rare Dis. 2014 Dec 18;9:199
pubmed: 25519680
Sci Rep. 2019 Aug 13;9(1):11733
pubmed: 31409882
Lancet Neurol. 2011 Apr;10(4):320-8
pubmed: 21393063
Dig Dis Sci. 2012 Apr;57(4):897-904
pubmed: 22198701
J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):706-10
pubmed: 22577229
Eur J Neurol. 2016 Oct;23(10):1566-71
pubmed: 27412484
Mol Ther Nucleic Acids. 2016 Jul 05;5(7):e331
pubmed: 27377135
Neurology. 2020 Mar 3;94(9):e884-e896
pubmed: 32047073
Brain. 1996 Oct;119 ( Pt 5):1461-9
pubmed: 8931571
Cell Rep. 2017 Sep 12;20(11):2719-2734
pubmed: 28903050
J Cachexia Sarcopenia Muscle. 2018 Feb;9(1):20-27
pubmed: 29193905
Exp Neurobiol. 2019 Apr;28(2):279-288
pubmed: 31138995
FASEB J. 2018 Jun 22;:fj201800597R
pubmed: 29932869
Ann Transl Med. 2016 Jun;4(12):236
pubmed: 27429962
JAMA Neurol. 2013 Aug;70(8):981-7
pubmed: 23797954
J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):873-8
pubmed: 25430934
Eur Radiol. 2014 Jul;24(7):1610-20
pubmed: 24748539
Front Mol Neurosci. 2020 Jun 23;13:102
pubmed: 32655365
Neuromuscul Disord. 1991;1(2):93-7
pubmed: 1822787

Auteurs

Hongge Wang (H)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Matthew Davison (M)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Kathryn Wang (K)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Tai-He Xia (TH)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Katherine M Call (KM)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Jun Luo (J)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Xingyao Wu (X)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Riccardo Zuccarino (R)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Alexa Bacha (A)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Yunhong Bai (Y)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Laurie Gutmann (L)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Shawna M E Feely (SME)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Tiffany Grider (T)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Alexander M Rossor (AM)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.
ORCID: 0000-0003-4648-2896

Mary M Reilly (MM)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.
ORCID: 0000-0003-0686-905X

Michael E Shy (ME)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.
ORCID: 0000-0001-8460-6971

John Svaren (J)

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison. jpsvaren@wisc.edu.
ORCID: 0000-0003-2963-7921

Articles similaires

Comprehensive comparative analysis and development of molecular markers for Lasianthus species based on complete chloroplast genome sequences.

Yue Zhang, Meifang Song, Deying Tang et al.
1.00
Genome, Chloroplast Phylogeny Genetic Markers Base Composition High-Throughput Nucleotide Sequencing

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Classifications MeSH

questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Potentiels de membrane › Potentiels d'action › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Phénomènes physiologiques › Croissance et développement › Vieillissement › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Neuropathie héréditaire motrice et sensitive › Maladie de Charcot-Marie-Tooth › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Sciences de l'information › Informatique › Biologie informatique › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN non traduit › Petit ARN non traduit › microARN › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Cellules › Neurones › Neurones efférents › Motoneurones › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Tissus › Muscles › Muscle strié › Muscles squelettiques › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Conduction nerveuse › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Protéines neurofilamenteuses › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Système nerveux › Système nerveux périphérique › Nerfs périphériques › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Méthodologie en recherche épidémiologique › Reproductibilité des résultats › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Cellules › Névroglie › Cellules de Schwann › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...
questionsmedicales.fr › Système nerveux › Système nerveux périphérique › Nerfs périphériques › Nerfs spinaux › Plexus brachial › Nerf ulnaire › MicroRNAs as Biomarkers of Charcot-Marie-Tooth...