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oai:repisalud.isciii.es:20.500.12105/179932024-11-28T15:42:59Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927
Repisalud author Putkonen, Noora author Laiho, Asta author Ethell, Doug author Pursiheimo, Juha author Anttonen, Anna-Kaisa author Pitkonen, Juho author Gentile, Adriana M. author de Diego-Otero, Yolanda author Castrén, Maija L. authoraffiliation [Putkonen,N; Pitkonen,J; Castrén,ML] Faculty of Medicine, Physiology, University of Helsinki, Helsinki, Finland. [Laiho,A] Turku Centre for Biotechnology, University of Turku and Åbo Akademi University, Turku, Finland. [Ethell,D] Leucadia Therapeutics Inc., Riverside, USA. [Pursiheimo,J] The Joint Clinical Biochemistry Laboratory of University of Turku, University Central Hospital and Wallac Oy,Turku, Finland. [Anttonen,AK] Department of Clinical Genetics, University Hospital of Helsinki, Helsinki, Finland. [Gentile,AM; de Diego-Otero,Y] Institute of Biomedical Research of Malaga (IBIMA) and Mental Health Unit, Regional University Hospital of Malaga, University of Malaga, Research lab. Hospital Civil, Malaga, Spain. [Castrén,ML] Rinnekoti Foundation, Espoo, Finland. [Castrén,ML] Division of Biomedical Sciences, School of Medicine, University of California, Riverside, USA. 2024-02-12T19:45:14Z 2024-02-12T19:45:14Z 2020-01-24 10.3390/cells9020289 2073-4409 Cells http://hdl.handle.net/10668/4329 31991700 http://hdl.handle.net/20.500.12105/17993 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. eng Disease biomarker Urine miRNA Fragile X syndrome Autism MiR-125a MicroRNA Child Urine Intellectual disability Síndrome del cromosoma X frágil MicroARNs Niño Orina Discapacidad intelectual Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile X Syndrome research article