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- W2002300909 abstract "The facioscapulohumeral muscular dystrophy (FSHD) is the third most common dystrophy with an incidence of 1:15,000–20,000. It is characterized by progressive weakness and atrophy of facial and shoulder girdle muscles. FSHD is mainly due to deletions in the sub-telomeric tandemly repeated sequences (D4Z4) located at the 4q35 region of the chromosome 4. Although the locus of the disease is well characterized at the genetic level, the physiopathological mechanism underlying FSHD muscle impairment is still a matter of debate. It has been proposed that D4Z4 likely carries a transcriptional silencer which regulates neighbourhood genes and particularly ANT1, FRG1 and FRG2. FRG1 misregulation seems to be particularly crucial in FSHD since its forced expression (human-FRG1) in transgenic mice induces a severe muscular dystrophy with features characteristic of the human disease including aberrant alternative splicing of several muscular pre-mRNAs (Galellini et al, Nature 2006). Here, we have tested the consequences of an over-expression of the mouse-FRG1 in normal adult mice (C57B6). This was achieved by intramuscular administration of AAV vectors carrying a mouse-FRG1 cDNA under the control of the CMV promoter. As soon as one month after injection, we observed muscle atrophy and severe dystrophy in treated muscles. Aberrant alternative splicing is under investigation. This result confirms the toxic effect of an excess of FRG1 in the skeletal muscle. We are now developing strategies to inhibit FRG1 expression. Preliminary results will be discussed in the presentation." @default.
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- W2002300909 date "2007-10-01" @default.
- W2002300909 modified "2023-09-26" @default.
- W2002300909 title "G.P.7.08 FRG1 over-expression induces severe dystrophic phenotype in mouse" @default.
- W2002300909 doi "https://doi.org/10.1016/j.nmd.2007.06.159" @default.
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