Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations

Beatrice Primerano, Flora Tassone, Randi J Hagerman, Paul J Hagerman, Francesco Amaldi, Claudia Bagni

Research output: Contribution to journalArticlepeer-review

158 Scopus citations


The Fragile X mental retardation ′gene (FMR1) contains a polymorphic trinucleotide CGG repeat in the 5 untranslated region (UTR) of the FMR1 messenger. We have characterized three lymphoblastoid cell lines derived from unrelated male carriers of a premutation that overexpress FMR1 mRNA and show reduced FMRP level compared to normal cells. The analysis of polysomes/mRNPs distribution of mRNA in the cell lines with a premutation shows that the polysomal association of FMR1 mRNA, which is high in normal cells, becomes progressively lower with increasing CGG repeat expansion. In addition, we could detect a very low level of FMR1 mRNA in a lymphoblastoid cell line from a patient with a full mutation. In this case, FMR1 mRNA is not at all associated with polysomes, in agreement with the complete absence of FMRP. The impairment of FMR1 mRNA translation in patients with the Fragile X syndrome with FMR1 premutation is the cause of the lower FMRP levels that leads to the clinical involvement.

Original languageEnglish (US)
Pages (from-to)1482-1488
Number of pages7
Issue number12
StatePublished - Dec 1 2002


  • Mental retardation
  • mRNA translation
  • Repeat expansion

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology


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