RT Journal Article
T1 Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes
A1 Valor, Luis M.
A1 Morales, Jorge C.
A1 Hervás-Corpión, Irati
A1 Marín, Rosario
K1 FXTAS
K1 FXPOI
K1 FXAND
K1 Premutation
K1 Blood
K1 Biomarker
K1 FMR1
K1 FMRP
K1 Endocrine
K1 Mitochondria
K1 miRNA
K1 Transcription
K1 GABA
K1 Telomere
K1 Sangre
K1 Biomarcadores
K1 Mitocondrias
K1 MicroARNs
K1 Transcripción genética
K1 Telómero
AB Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and, in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5'-UTR of the Fragile X Mental Retardation 1 (FMR1) gene have pleiotropic effects that lead to a variety of Fragile X-associated syndromes: the neurodevelopmental Fragile X syndrome (FXS) in children, the late-onset neurodegenerative disorder Fragile X-associated tremor-ataxia syndrome (FXTAS) that mainly affects adult men, the Fragile X-associated primary ovarian insufficiency (FXPOI) in adult women, and a variety of psychiatric and affective disorders that are under the term of Fragile X-associated neuropsychiatric disorders (FXAND). In this review, we will describe the pathological mechanisms of the adult "gain-of-function" syndromes that are mainly caused by the toxic actions of CGG RNA and FMRpolyG peptide. There have been intensive attempts to identify reliable peripheral biomarkers to assess disease progression and onset of specific pathological traits. Mitochondrial dysfunction, altered miRNA expression, endocrine system failure, and impairment of the GABAergic transmission are some of the affectations that are susceptible to be tracked using peripheral blood for monitoring of the motor, cognitive, psychiatric and reproductive impairment of the CGG-expansion carriers. We provided some illustrative examples from our own cohort. Understanding the association between molecular pathogenesis and biomarkers dynamics will improve effective prognosis and clinical management of CGG-expansion carriers.
PB MDPI
SN 1661-6596
YR 2021
FD 2021-08-04
LK http://hdl.handle.net/10668/3691
UL http://hdl.handle.net/10668/3691
LA en
NO Valor LM, Morales JC, Hervás-Corpión I, Marín R. Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes. Int J Mol Sci. 2021 Aug 4;22(16):8368
DS RISalud
RD Apr 9, 2025