Insight and Recommendations for Fragile X Premutation Associated Conditions from the 5th International Conference on FMR1 Premutation

Flora Tassone; Dragana Protic; Emily Allen; Alison D. Archibald; Anna Baud; W Ted Brown; Dejan B. Budimirovic; Jonathan Cohen; Brett Dufour; Rachel Eiges; Nicola Elvassore; Lidia V. Gabis; Samantha J Grudzien; Deborah Hall; David Hessl; Abigail Hogan; Jessica Ezzell Hunter; Peng Jin; Poonnada Jiraanont; Jessica Klusek; R. Frank Kooy; Claudine M Kraan; Cecilia Laterza; Andrea Lee; Karen Lipworth; Molly Losh; Danuta Z Loesch; Reymundo Lozano; Marsha Mailick; Apostolos Manolopoulos; Verónica Martínez-Cerdeño; Yingratana Amabel McLennan; Robert M. Miller; Alice Montanaro; Matthew W. Mosconi; Sarah Potter; Melissa Raspa; Susan M. Rivera; Katharine Shelly; Peter K. Todd; Katarzyna Tutak; Jun Yi Wang; Anne C Wheeler; Tri Indah Winarni; Marwa Zafarullah; Randi Hagerman

doi:10.20944/preprints202307.0605.v1

A peer-reviewed article of this Preprint also exists.

Tassone, F.; Protic, D.; Allen, E.G.; Archibald, A.D.; Baud, A.; Brown, T.W.; Budimirovic, D.B.; Cohen, J.; Dufour, B.; Eiges, R.; Elvassore, N.; Gabis, L.V.; Grudzien, S.J.; Hall, D.A.; Hessl, D.; Hogan, A.; Hunter, J.E.; Jin, P.; Jiraanont, P.; Klusek, J.; Kooy, R.F.; Kraan, C.M.; Laterza, C.; Lee, A.; Lipworth, K.; Losh, M.; Loesch, D.; Lozano, R.; Mailick, M.R.; Manolopoulos, A.; Martinez-Cerdeno, V.; McLennan, Y.; Miller, R.M.; Montanaro, F.A.M.; Mosconi, M.W.; Potter, S.N.; Raspa, M.; Rivera, S.M.; Shelly, K.; Todd, P.K.; Tutak, K.; Wang, J.Y.; Wheeler, A.; Winarni, T.I.; Zafarullah, M.; Hagerman, R.J. Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation. Cells 2023, 12, 2330. Tassone, F.; Protic, D.; Allen, E.G.; Archibald, A.D.; Baud, A.; Brown, T.W.; Budimirovic, D.B.; Cohen, J.; Dufour, B.; Eiges, R.; Elvassore, N.; Gabis, L.V.; Grudzien, S.J.; Hall, D.A.; Hessl, D.; Hogan, A.; Hunter, J.E.; Jin, P.; Jiraanont, P.; Klusek, J.; Kooy, R.F.; Kraan, C.M.; Laterza, C.; Lee, A.; Lipworth, K.; Losh, M.; Loesch, D.; Lozano, R.; Mailick, M.R.; Manolopoulos, A.; Martinez-Cerdeno, V.; McLennan, Y.; Miller, R.M.; Montanaro, F.A.M.; Mosconi, M.W.; Potter, S.N.; Raspa, M.; Rivera, S.M.; Shelly, K.; Todd, P.K.; Tutak, K.; Wang, J.Y.; Wheeler, A.; Winarni, T.I.; Zafarullah, M.; Hagerman, R.J. Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation. Cells 2023, 12, 2330.

Abstract

The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5' untranslated region, and increased levels of FMR1 mRNA. Molecular mechanisms leading to fragile X premutation-associated conditions (FXPAC) include co-transcriptional R loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear foci, and sequestration of various CGG re-peat-binding proteins, and repeat-associated non-AUG (RAN) initiated translation of potentially toxic proteins. Such molecular mechanisms contribute to subsequent consequences, including mitochondrial dysfunction and neuronal death. Clinically, premutation carriers may exhibit a wide range of symptoms and phenotypes. Any of the problems associated with the premutation, can appropriately be called FXPAC. Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND) can fall under FXPAC. Understanding the molecular and clinical aspects of the premutation of the FMR1 gene is crucial for accurate diagnosis, genetic counseling, and appropriate management of affected individuals and families. This paper summarizes all the known problems associated with the premutation and documents the presentations and discussions that occurred at the International Premutation Conference, which took place in New Zealand in 2023.

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Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Insight and Recommendations for Fragile X Premutation Associated Conditions from the 5th International Conference on FMR1 Premutation

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