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miRNAs as Biomarkers in Disease: Latest Findings Regarding Their Role in Diagnosis and Prognosis
Open AccessArticle

Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile X Syndrome

1
Faculty of Medicine, Physiology, University of Helsinki, FI-00014 Helsinki, Finland
2
Turku Centre for Biotechnology, University of Turku and Åbo Akademi University, Tykistökatu 6A, FI-20520 Turku, Finland
3
Leucadia Therapeutics Inc., Riverside, CA 92506, USA
4
The Joint Clinical Biochemistry Laboratory of University of Turku, University Central Hospital and Wallac Oy, FI-20520 Turku, Finland
5
Department of Clinical Genetics, University Hospital of Helsinki, 160, FI-00290 Helsinki, Finland
6
Institute of Biomedical Research of Malaga (IBIMA) and Mental Health Unit, Regional University Hospital of Malaga, University of Malaga, Research lab. Hospital Civil, Pab-6 sot. 29009 Malaga, Spain
7
Rinnekoti Foundation, FIN-02980 Espoo, Finland
8
Division of Biomedical Sciences, School of Medicine, University of California, Riverside, CA 92521, USA
*
Authors to whom correspondence should be addressed.
Cells 2020, 9(2), 289; https://doi.org/10.3390/cells9020289
Received: 5 November 2019 / Revised: 6 January 2020 / Accepted: 22 January 2020 / Published: 24 January 2020
(This article belongs to the Special Issue microRNA as Biomarker)
A triplet repeat expansion leading to transcriptional silencing of the FMR1 gene results in fragile X syndrome (FXS), which is a common cause of inherited intellectual disability and autism. Phenotypic variation requires personalized treatment approaches and hampers clinical trials in FXS. We searched for microRNA (miRNA) biomarkers for FXS using deep sequencing of urine and identified 28 differentially regulated miRNAs when 219 reliably identified miRNAs were compared in dizygotic twin boys who shared the same environment, but one had an FXS full mutation, and the other carried a premutation allele. The largest increase was found in miR-125a in the FXS sample, and the miR-125a levels were increased in two independent sets of urine samples from a total of 19 FXS children. Urine miR-125a levels appeared to increase with age in control subjects, but varied widely in FXS subjects. Should the results be generalized, it could suggest that two FXS subgroups existed. Predicted gene targets of the differentially regulated miRNAs are involved in molecular pathways that regulate developmental processes, homeostasis, and neuronal function. Regulation of miR-125a has been associated with type I metabotropic glutamate receptor signaling (mGluR), which has been explored as a treatment target for FXS, reinforcing the possibility that urine miR-125a may provide a novel biomarker for FXS. View Full-Text
Keywords: disease biomarker; urine miRNA; fragile X syndrome; autism; miR-125a disease biomarker; urine miRNA; fragile X syndrome; autism; miR-125a
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MDPI and ACS Style

Putkonen, N.; Laiho, A.; Ethell, D.; Pursiheimo, J.; Anttonen, A.-K.; Pitkonen, J.; Gentile, A.M.; de Diego-Otero, Y.; Castrén, M.L. Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile X Syndrome. Cells 2020, 9, 289. https://doi.org/10.3390/cells9020289

AMA Style

Putkonen N, Laiho A, Ethell D, Pursiheimo J, Anttonen A-K, Pitkonen J, Gentile AM, de Diego-Otero Y, Castrén ML. Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile X Syndrome. Cells. 2020; 9(2):289. https://doi.org/10.3390/cells9020289

Chicago/Turabian Style

Putkonen, Noora; Laiho, Asta; Ethell, Doug; Pursiheimo, Juha; Anttonen, Anna-Kaisa; Pitkonen, Juho; Gentile, Adriana M.; de Diego-Otero, Yolanda; Castrén, Maija L. 2020. "Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile X Syndrome" Cells 9, no. 2: 289. https://doi.org/10.3390/cells9020289

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