NDLI: RNA processing is altered in skeletal muscle nuclei of patients affected by myotonic dystrophy

Content Provider	Springer Nature Link
Author	Malatesta, Manuela Giagnacovo, Marzia Cardani, Rosanna Meola, Giovanni Pellicciari, Carlo
Copyright Year	2011
Abstract	Myotonic dystrophies (DMs) are characterised by highly variable clinical manifestations consisting of muscle weakness and atrophy, and a wide spectrum of extramuscular manifestations. In both DM1 and DM2 forms, expanded nucleotide sequences cause the accumulation of mutant transcripts in the nucleus, thus deregulating the function of some RNA-binding proteins and providing a plausible explanation for the multifactorial phenotype of DM patients. However, at the skeletal muscle level, no mechanistic explanation for the muscle wasting has so far been proposed. We therefore performed a study in situ by immunoelectron microscopy on biceps brachii biopsies from DM1, DM2 and healthy subjects, providing the first ultrastructural evidence on the distribution of some nuclear ribonucleoprotein (RNP)-containing structures and molecular factors involved in pre-mRNA transcription and maturation in dystrophic myonuclei. Our results demonstrated an accumulation of splicing and cleavage factors in myonuclei of both DM1 and DM2 patients, suggesting an impairment of post-transcriptional pre-mRNA pathways. The transcription of the expanded sequences in DM myonuclei would therefore hamper functionality of the whole splicing machinery, slowing down the intranuclear molecular trafficking; this would reduce the capability of myonuclei to respond to anabolic stimuli thus contributing to muscle wasting.
Starting Page	419
Ending Page	425
Page Count	7
File Format	PDF
ISSN	09486143
Journal	Histochemistry and Cell Biology
Volume Number	135
Issue Number	4
e-ISSN	1432119X
Language	English
Publisher	Springer-Verlag
Publisher Date	2011-03-09
Publisher Place	Berlin/Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Myotonic dystrophy Skeletal muscle RNA processing Electron microscopy Immunocytochemistry Anatomy Medicine/Public Health
Content Type	Text
Resource Type	Article
Subject	Cell Biology Histology Molecular Biology Medical Laboratory Technology

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