RT Journal Article
T1 Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile X Syndrome
A1 Putkonen, Noora
A1 Laiho, Asta
A1 Ethell, Doug
A1 Pursiheimo, Juha
A1 Anttonen, Anna-Kaisa
A1 Pitkonen, Juho
A1 Gentile, Adriana M.
A1 de Diego-Otero, Yolanda
A1 Castrén, Maija L.
K1 Disease biomarker
K1 Urine miRNA
K1 Fragile X syndrome
K1 Autism
K1 MiR-125a
K1 MicroRNA
K1 Child
K1 Urine
K1 Intellectual disability
K1 Síndrome del cromosoma X frágil
K1 MicroARNs
K1 Niño
K1 Orina
K1 Discapacidad intelectual
AB 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.
PB MDPI
YR 2020
FD 2020-01-24
LK http://hdl.handle.net/10668/4329
UL http://hdl.handle.net/10668/4329
LA en
NO Putkonen N, Laiho A, Ethell D, Pursiheimo J, Anttonen AK, Pitkonen J, et al. Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile X Syndrome. Cells. 2020 Jan 24;9(2):289
DS RISalud
RD Apr 10, 2025