Extracellular vesicle-based delivery of silencing sequences for the treatment of Machado-Joseph disease/spinocerebellar ataxia type 3.

ExoMotif MJD SCA3 ataxin-3 extracellular vesicles gene therapy intranasal miRNA spinocerebellar ataxia type 3

Journal

Molecular therapy : the journal of the American Society of Gene Therapy
ISSN: 1525-0024
Titre abrégé: Mol Ther
Pays: United States
ID NLM: 100890581

Informations de publication

Date de publication:
03 05 2023
Historique:
received: 30 10 2022
revised: 29 03 2023
accepted: 03 04 2023
pmc-release: 03 05 2024
medline: 8 5 2023
pubmed: 8 4 2023
entrez: 7 4 2023
Statut: ppublish

Résumé

Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominantly inherited ataxia worldwide. It is caused by an over-repetition of the trinucleotide CAG within the ATXN3 gene, which confers toxic properties to ataxin-3 (ATXN3) species. RNA interference technology has shown promising therapeutic outcomes but still lacks a non-invasive delivery method to the brain. Extracellular vesicles (EVs) emerged as promising delivery vehicles due to their capacity to deliver small nucleic acids, such as microRNAs (miRNAs). miRNAs were found to be enriched into EVs due to specific signal motifs designated as ExoMotifs. In this study, we aimed at investigating whether ExoMotifs would promote the packaging of artificial miRNAs into EVs to be used as non-invasive therapeutic delivery vehicles to treat MJD/SCA3. We found that miRNA-based silencing sequences, associated with ExoMotif GGAG and ribonucleoprotein A2B1 (hnRNPA2B1), retained the capacity to silence mutant ATXN3 (mutATXN3) and were 3-fold enriched into EVs. Bioengineered EVs containing the neuronal targeting peptide RVG on the surface significantly decreased mutATXN3 mRNA in primary cerebellar neurons from MJD YAC 84.2 and in a novel dual-luciferase MJD mouse model upon daily intranasal administration. Altogether, these findings indicate that bioengineered EVs carrying miRNA-based silencing sequences are a promising delivery vehicle for brain therapy.

Identifiants

pubmed: 37025062
pii: S1525-0016(23)00199-5
doi: 10.1016/j.ymthe.2023.04.001
pmc: PMC10188911
pii:
doi:

Substances chimiques

MicroRNAs 0
Ataxin-3 EC 3.4.19.12
Peptides 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

1275-1292

Informations de copyright

Copyright © 2023 The American Society of Gene and Cell Therapy. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests The authors declare no competing interests.

Références

Nat Commun. 2021 Nov 18;12(1):6666
pubmed: 34795295
Stem Cell Reports. 2019 Apr 9;12(4):712-727
pubmed: 30930246
J Extracell Vesicles. 2018 Nov 23;7(1):1535750
pubmed: 30637094
Pathogens. 2021 Apr 27;10(5):
pubmed: 33925397
Cell Rep. 2016 Oct 11;17(3):799-808
pubmed: 27732855
Pharmaceutics. 2020 Jan 24;12(2):
pubmed: 31991664
Eur J Pharm Sci. 2014 Aug 18;60:32-9
pubmed: 24813112
J Control Release. 2021 Oct 10;338:472-485
pubmed: 34428481
Cell Rep. 2019 Apr 16;27(3):940-954.e6
pubmed: 30956133
Hum Mol Genet. 2002 May 1;11(9):1075-94
pubmed: 11978767
Hum Gene Ther. 2019 Jul;30(7):841-854
pubmed: 30760052
Genomics. 1994 Jun;21(3):645-8
pubmed: 7959745
Hum Mol Genet. 1995 May;4(5):807-12
pubmed: 7633439
Mol Ther Methods Clin Dev. 2019 Oct 28;15:343-358
pubmed: 31828177
Nat Genet. 1993 Jul;4(3):300-4
pubmed: 8358439
Mol Ther Nucleic Acids. 2017 Jun 16;7:200-210
pubmed: 28624196
Int J Pharm. 2019 Jun 10;564:329-339
pubmed: 31015006
J Biol Chem. 2015 Mar 27;290(13):8166-72
pubmed: 25657008
Nano Lett. 2019 Jan 9;19(1):19-28
pubmed: 30517011
Nat Commun. 2018 Apr 3;9(1):1305
pubmed: 29610454
Nat Cell Biol. 2021 Dec;23(12):1217-1219
pubmed: 34887514
Nat Rev Dis Primers. 2019 Apr 11;5(1):24
pubmed: 30975995
Int Immunopharmacol. 2022 Mar;104:108493
pubmed: 35032826
Nat Biotechnol. 2011 Apr;29(4):341-5
pubmed: 21423189
Nat Rev Mol Cell Biol. 2020 Oct;21(10):585-606
pubmed: 32457507
J Control Release. 2013 Nov 28;172(1):229-238
pubmed: 23994516
Nucleic Acid Ther. 2022 Jun;32(3):194-205
pubmed: 34878314
Nat Cell Biol. 2018 Mar;20(3):332-343
pubmed: 29459780
J Natl Cancer Inst. 2019 Mar 1;111(3):283-291
pubmed: 30257000
ACS Nano. 2017 Nov 28;11(11):10883-10893
pubmed: 28960957
Nature. 2017 Jun 22;546(7659):498-503
pubmed: 28607485
Mol Ther. 2010 May;18(5):993-1001
pubmed: 20216529
Nature. 2022 Jan;601(7893):446-451
pubmed: 34937935
Nat Commun. 2013;4:2980
pubmed: 24356509
Brain Res. 2020 May 1;1734:146738
pubmed: 32081534
Neuroscience. 2004;127(2):481-96
pubmed: 15262337
Int J Mol Sci. 2021 Jul 07;22(14):
pubmed: 34298912
Nat Biomed Eng. 2020 Jan;4(1):52-68
pubmed: 31937944
Front Mol Neurosci. 2015 May 18;8:14
pubmed: 26041987
Clin Radiol. 2013 Feb;68(2):203-13
pubmed: 22889460
Neurobiol Dis. 2001 Jun;8(3):433-46
pubmed: 11442352
J Extracell Biol. 2022 Oct;1(10):
pubmed: 36591537
PLoS One. 2010 Jun 14;5(6):e11085
pubmed: 20559428
Curr Pharm Des. 2020;26(5):594-619
pubmed: 31939728
Elife. 2016 Aug 25;5:
pubmed: 27559612
Lancet Neurol. 2004 May;3(5):291-304
pubmed: 15099544
Brain. 2021 Dec 16;144(11):3421-3435
pubmed: 34918046
Hum Mol Genet. 2010 Jun 15;19(12):2380-94
pubmed: 20308049
PLoS One. 2008 Oct 08;3(10):e3341
pubmed: 18841197
Neuromolecular Med. 2013 Mar;15(1):74-81
pubmed: 22903378
Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5515-20
pubmed: 11960009
Chem Senses. 2000 Feb;25(1):61-6
pubmed: 10667995
PLoS One. 2014 Aug 21;9(8):e100086
pubmed: 25144231
Brain. 1998 Sep;121 ( Pt 9):1687-93
pubmed: 9762957
Mol Ther. 2011 Oct;19(10):1769-79
pubmed: 21915101
Stem Cell Res Ther. 2020 Jun 8;11(1):222
pubmed: 32513306
Nucl Med Biol. 2022 Sep-Oct;112-113:20-30
pubmed: 35763877
Hum Mol Genet. 2008 Jul 15;17(14):2071-83
pubmed: 18385100
PLoS One. 2013;8(1):e52396
pubmed: 23349684
Nat Rev Mol Cell Biol. 2022 May;23(5):369-382
pubmed: 35260831
Mol Ther. 2017 Apr 5;25(4):1038-1055
pubmed: 28236575
Cell. 2009 Jan 23;136(2):215-33
pubmed: 19167326
Nat Protoc. 2012 Dec;7(12):2112-26
pubmed: 23154783
Brain Res. 1998 Nov 2;809(2):238-45
pubmed: 9853116
Sci Rep. 2021 Feb 8;11(1):3345
pubmed: 33558582
Stem Cell Res. 2019 Aug;39:101504
pubmed: 31374463
Stem Cells Transl Med. 2020 Sep;9(9):1068-1084
pubmed: 32496649
Mol Ther. 2012 May;20(5):960-71
pubmed: 22314290
Elife. 2019 Aug 22;8:
pubmed: 31436530
Nature. 2007 Jul 5;448(7149):39-43
pubmed: 17572664
Mol Ther. 2013 Oct;21(10):1909-18
pubmed: 23820820
Brain Commun. 2021 Apr 01;3(2):fcab054
pubmed: 34704020
J Control Release. 2017 Sep 28;262:247-258
pubmed: 28687495
Oncotarget. 2019 Jul 08;10(43):4351-4353
pubmed: 31320988
Biomaterials. 2016 Mar;82:124-37
pubmed: 26757259
Proc Natl Acad Sci U S A. 2017 Oct 24;114(43):E8987-E8995
pubmed: 29073095
Nano Lett. 2019 Jun 12;19(6):3422-3431
pubmed: 30761901
Biomaterials. 2014 Aug;35(26):7598-609
pubmed: 24917028
Cell Rep. 2022 Apr 12;39(2):110651
pubmed: 35417683
Mol Neurobiol. 2014 Jun;49(3):1513-31
pubmed: 24293103
Nat Cell Biol. 2021 Dec;23(12):1240-1254
pubmed: 34887515
Sci Transl Med. 2018 Jun 6;10(444):
pubmed: 29875202
Nat Genet. 1994 Nov;8(3):221-8
pubmed: 7874163
J Transl Med. 2022 Jan 4;20(1):13
pubmed: 34983581
Mol Pharm. 2021 Feb 1;18(2):714-725
pubmed: 32787268
Philos Trans R Soc Lond B Biol Sci. 2014 Sep 26;369(1652):
pubmed: 25135977
CNS Neurol Disord Drug Targets. 2009 Jun;8(3):195-204
pubmed: 19601817

Auteurs

David Rufino-Ramos (D)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal.

Patrícia R Albuquerque (PR)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal.

Kevin Leandro (K)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal.

Vitor Carmona (V)

Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal.

Inês M Martins (IM)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal.

Rita Fernandes (R)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal.

Carina Henriques (C)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal.

Diana Lobo (D)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal.

Rosário Faro (R)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal.

Rita Perfeito (R)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal.

Liliana S Mendonça (LS)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal.

Dina Pereira (D)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal.

Célia M Gomes (CM)

CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Coimbra, Portugal; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.

Rui Jorge Nobre (RJ)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal.

Luís Pereira de Almeida (L)

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Rua Larga, Coimbra 3004-504, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal; Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal. Electronic address: luispa@cnc.uc.pt.

Articles similaires

Robotic Surgical Procedures Animals Humans Telemedicine Models, Animal

Odour generalisation and detection dog training.

Lyn Caldicott, Thomas W Pike, Helen E Zulch et al.
1.00
Animals Odorants Dogs Generalization, Psychological Smell
Animals TOR Serine-Threonine Kinases Colorectal Neoplasms Colitis Mice
Animals Tail Swine Behavior, Animal Animal Husbandry

Classifications MeSH