Molecular model of OPMD.
Aymeric Chartier
Pierre Klein
Stéphanie Pierson
Nicolas Barbezier
Teresa Gidaro
François Casas
Steven Carberry
Paul Dowling
Laurie Maynadier
Maëlle Bellec
Martine Oloko
Claude Jardel
Bodo Moritz
George Dickson
Vincent Mouly
Kay Ohlendieck
Gillian Butler-Browne
Capucine Trollet
Martine Simonelig
10.1371/journal.pgen.1005092.g009
https://plos.figshare.com/articles/figure/_Molecular_model_of_OPMD_/1359258
<p>The first molecular defect in OPMD would be a general decrease in the cleavage/polyadenylation reaction resulting from affected PABPN1 function. This would not lead to a reduction of mRNA levels at steady-state for most mRNAs, but would lead to such a decrease for mRNAs actively deadenylated by Smg/CCR4-NOT, among which mRNAs involved in mitochondrial function. This would result in mitochondrial dysfunction and in turn affected muscle function. Additional mechanisms of mRNA regulation occurring downstream of the first defect in cleavage/polyadenylation are also expected to be involved. CPSF, Cleavage and polyadenylation specificity factor; CstF, Cleavage stimulation factor; PAP, poly(A) polymerase.</p>
2015-03-27 04:22:30
ccr
mRNAs encoding mitochondrial proteins
cleavage
poly
Drosophila OPMD model uncovers
deadenylation regulator Smaug
pabpn
candidate genes encoding RNA binding proteins
role
Oculopharyngeal Muscular Dystrophy Pathogenesis Oculopharyngeal
mitochondrial dysfunction