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Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile X Syndrome
- Source :
- Cells, Volume 9, Issue 2, Cells, Vol 9, Iss 2, p 289 (2020)
- Publication Year :
- 2020
- Publisher :
- Multidisciplinary Digital Publishing Institute, 2020.
-
Abstract
- 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.
- Subjects :
- Male
MECHANISM
Síndrome del cromosoma X frágil
Autism
Intellectual disability
Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencing [Medical Subject Headings]
Urine
Receptors, Metabotropic Glutamate
MIRNA
Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]
0302 clinical medicine
MiR-125a
fragile X syndrome
Child
lcsh:QH301-705.5
Genetics
0303 health sciences
MicroARNs
Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Receptors, Cell Surface::Receptors, G-Protein-Coupled::Receptors, Metabotropic Glutamate [Medical Subject Headings]
Diseases::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability::Mental Retardation, X-Linked::Fragile X Syndrome [Medical Subject Headings]
1184 Genetics, developmental biology, physiology
urine miRNA
High-Throughput Nucleotide Sequencing
Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::Signal Transduction [Medical Subject Headings]
MicroRNA
General Medicine
Discapacidad intelectual
Fragile X syndrome
Child, Preschool
Niño
Biomarker (medicine)
Female
Signal Transduction
EXPRESSION
congenital, hereditary, and neonatal diseases and abnormalities
Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings]
Adolescent
Dizygotic twin
Check Tags::Male [Medical Subject Headings]
autism
Biology
disease biomarker
Deep sequencing
Article
Persons::Persons::Age Groups::Adolescent [Medical Subject Headings]
RNAS
03 medical and health sciences
CIRCULATING MICRORNAS
miR-125a
microRNA
medicine
Gene silencing
Humans
Persons::Persons::Age Groups::Child [Medical Subject Headings]
030304 developmental biology
Disease biomarker
medicine.disease
Orina
Urine miRNA
GENE
Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Antisense Elements (Genetics)::RNA, Antisense::MicroRNAs [Medical Subject Headings]
Circulating MicroRNA
MicroRNAs
lcsh:Biology (General)
Check Tags::Female [Medical Subject Headings]
Mutation
1182 Biochemistry, cell and molecular biology
3111 Biomedicine
Persons::Persons::Age Groups::Child::Child, Preschool [Medical Subject Headings]
GENOMICS
030217 neurology & neurosurgery
Biomarkers
Subjects
Details
- Language :
- English
- ISSN :
- 20734409
- Database :
- OpenAIRE
- Journal :
- Cells
- Accession number :
- edsair.doi.dedup.....cddcb0888607d9127feaea578c4c1411
- Full Text :
- https://doi.org/10.3390/cells9020289