Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy.
MNGIE
Mitochondrial neurogastrointestinal encephalomyopathy
biomarker
erythrocyte encapsulated thymidine phosphorylase
miR-34a-5p
miRNA
mitochondrial disease
outcome measures
thymidine phosphorylase
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
01 Apr 2021
01 Apr 2021
Historique:
received:
25
02
2021
revised:
25
03
2021
accepted:
27
03
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
18
5
2021
Statut:
epublish
Résumé
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease for which there are currently no validated outcome measures for assessing therapeutic intervention efficacy. The aim of this study was to identify a plasma and/or serum microRNA (miRNA) biomarker panel for MNGIE. Sixty-five patients and 65 age and sex matched healthy controls were recruited and assigned to one of four study phases: (i) discovery for sample size determination; (ii) candidate screening; (iii) candidate validation; and (iv) verifying the performance of the validated miRNA panel in four patients treated with erythrocyte-encapsulated thymidine phosphorylase (EE-TP), an enzyme replacement under development for MNGIE. Quantitative PCR (qPCR) was used to profile miRNAs in serum and/or plasma samples collected for the discovery, validation and performance phases, and next generation sequencing (NGS) analysis was applied to serum samples assigned to the candidate screening phase. Forty-one differentially expressed candidate miRNAs were identified in the sera of patients (
Identifiants
pubmed: 33916195
pii: ijms22073681
doi: 10.3390/ijms22073681
pmc: PMC8037498
pii:
doi:
Substances chimiques
Biomarkers
0
MicroRNAs
0
Types de publication
Journal Article
Validation Study
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Medical Research Council
ID : MR/K025406/1
Pays : United Kingdom
Organisme : Lily Foundation
ID : LILY-2017.18 (APPLICATION 3 - BAX)
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