Response of plasma microRNAs to nusinersen treatment in patients with SMA.


Journal

Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278

Informations de publication

Date de publication:
07 2022
Historique:
revised: 26 04 2022
received: 23 02 2022
accepted: 28 04 2022
pubmed: 19 5 2022
medline: 14 7 2022
entrez: 18 5 2022
Statut: ppublish

Résumé

Spinal muscular atrophy (SMA) is a common genetic cause of infant mortality. Nusinersen treatment ameliorates the clinical outcome of SMA, however, some patients respond well, while others have limited response. We investigated microRNAs in blood samples from SMA patients and their response to nusinersen treatment evaluating the potential of circulating microRNAs as biomarkers for SMA. In a discovery cohort study, microRNA next-generation sequencing was performed in blood samples from SMA patients (SMA type 2, n = 10; SMA type 3, n = 10) and controls (n = 7). The dysregulated microRNAs were further analysed in the therapeutic response cohort comprised of SMA type 1 patients (n = 22) who had received nusinersen treatment, at three time points along the treatment course (baseline, 2 and 6 months of treatment). The levels of the studied microRNAs were correlated to the SMA clinical outcome measures. In the discovery cohort, 69 microRNAs were dysregulated between SMA patients and controls. In the therapeutic response cohort, the baseline plasma levels of miR-107, miR-142-5p, miR-335-5p, miR-423-3p, miR-660-5p, miR-378a-3p and miR-23a-3p were associated with the 2 and 6 months response to nusinersen treatment. Furthermore, the levels of miR-107, miR-142-5p, miR-335-5p, miR-423-3p, miR-660-5p and miR-378-3p at 2 months of treatment were associated with the response after 6 months of nusinersen treatment. Blood microRNAs could be used as biomarkers to indicate SMA patients' response to nusinersen and to monitor the efficacy of the therapeutic intervention. In addition, some of these microRNAs provide insight into processes involved in SMA that could be exploited as novel therapeutic targets.

Identifiants

pubmed: 35584175
doi: 10.1002/acn3.51579
pmc: PMC9268869
doi:

Substances chimiques

Biomarkers 0
MIRN660 microRNA, human 0
MicroRNAs 0
Oligonucleotides 0
nusinersen 5Z9SP3X666

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1011-1026

Subventions

Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 204841/Z/16/Z
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom

Commentaires et corrections

Type : CommentIn

Informations de copyright

© 2022 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

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Auteurs

Irina T Zaharieva (IT)

Developmental Neurosciences Research and Teaching Department, Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, University College London, London, UK.

Mariacristina Scoto (M)

Developmental Neurosciences Research and Teaching Department, Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, University College London, London, UK.
Great Ormond Street Hospital, London, UK.

Karolina Aragon-Gawinska (K)

Institute I-Motion, Hôpital Armand Trousseau, Paris, France.
Neurology Department, Medical University of Warsaw, Warsaw, Poland.

Deborah Ridout (D)

Population, Policy & Practice Department, UCL Great Ormond Street Institute of Child Health, London, UK.
NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.

Bruno Doreste (B)

Developmental Neurosciences Research and Teaching Department, Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, University College London, London, UK.

Laurent Servais (L)

Institute I-Motion, Hôpital Armand Trousseau, Paris, France.
Department of Paediatrics, MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, UK.
Department of Paediatrics, Neuromuscular Reference Center, Centre Hospitalier Universitaire de Liège, Liège, Belgium.

Francesco Muntoni (F)

Developmental Neurosciences Research and Teaching Department, Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, University College London, London, UK.
Great Ormond Street Hospital, London, UK.
NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.

Haiyan Zhou (H)

NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
Genetics and Genomic Medicine Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, UK.

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