About this Research Topic
Fragile X Syndrome (FXS), the most common form of inherited mental retardation, is caused by a trinucleotide repeat expansion (CGG) in the 5’-untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene located at the X chromosome. Patients with fragile X–related mental retardation, carry the full mutation CGG-repeat expansions (≥200 repeats), which are generally accompanied by hypermethylation of the promoter region, with the consequent transcriptional silencing of the FMR1 gene and absence of the encoded FMR1 protein (FMRP).
Being a FMR1 premutation carrier (55-199 CGG repeats) might be symptomatic and is associated with various medical conditions. Indeed, it is estimated that over 20 million people worldwide carry premutation expansions of the FMR1 gene, and that over half of those individuals will experience some clinical involvement due to their premutation.
The “International Conference of FMR1 Premutation” has become a major interdisciplinary meeting for clinicians and academic scientists working in the challenging fields of fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXOPI), and other clinical phenotypes of the FMR1 premutation. The ‘Third International Conference of FMR1 Premutation: Basic Mechanisms and Clinical Involvement’ will cover the entire spectrum of FMR1 premutation carriers. Clinicians and researchers will focus on the state of the art in fundamental science and various clinical aspects as well as the latest research developments on FMR1 premutation carriers.
The concepts of RNA and RAN translation protein toxicity are emerging as possible fey cellular mechanisms for cell toxicity. The conference will convene leading investigators and clinicians to present and discuss progress in our collective understanding of premutation disorders. We hope that the beautiful settings of Jerusalem will inspire new collaborations and novel research and treatment initiatives.
This Research Topic aims at gathering Proceedings of the Third International Conference of FMR1 Premutation: Basic Mechanisms and Clinical Involvement. We particularly welcome the submission of manuscripts focusing on FXTAS, FXPOI, PGD, fertility preservation, medical and psychological disease associated with FMR1 premutation carriers, and genetic screening.
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