Data di Pubblicazione:
2009
Citazione:
Dysregulation of MicroRNA Expression in
Myotonic Dystrophies / G. Meola, R. Perbellini, S. Greco, G. Sarra Ferraris, R. Cardani, F. Martelli. ((Intervento presentato al 134. convegno Annual Meeting American Neurological Association tenutosi a Baltimore (MD) - USA nel 2009.
Abstract:
Myotonic dystrophies (DM) are dominantly inherited multisystemic
disorders affecting skeletal muscle, heart, eye, and
the endocrine system. Myotonic dystrophy type-1 (DM1) is
caused by expansion of a CTG repeat in the 3’UTR of
DMPK gene, while myotonic dystrophy type-2 (DM2) is
caused by expansion of a CCTG repeat in the intron 1 of
ZNF9 gene. Both amplifications lead to the production of
mutant mRNA transcripts which interfere with alternative
splicing of other genes. However, other molecular mechanisms
may be involved in DM pathogenesis. MicroRNAs
(miRNAs) are short non-coding RNAs regulating gene expression
at post-trascriptional level. Recently, dysregulation
of miRNAs expression has been correlated with several muscle
diseases. However, miRNAs levels have not been studied
in DM. We measured the expression of 24 miRNAs in muscle
biopsies of DM1 (n 15), DM2 (n 9) and control
(n 10) subjects. Upregulation of miR1 and miR335 and
downregulation of miR29b, miR29c, miR33 and miR223
was observed in DM1 biopsies. In DM2 biopsies, upregulation
of miR34c was identified. Moreover tissue distribution
of selected miRNAs was determined by in situ hybridization.
This initial screening shows that miRNAs are differentially
expressed in DM, suggesting their potential role in DM
pathogenesis.
Tipologia IRIS:
14 - Intervento a convegno non pubblicato
Keywords:
MicroRNA Expression ; Myotonic Dystrophies
Elenco autori:
G. Meola, R. Perbellini, S. Greco, G. Sarra Ferraris, R. Cardani, F. Martelli
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