MNDs (motor neuron diseases) form a heterogeneous group of pathologies characterized by the progressive degeneration of motor neurons. More and more genetic factors associated with MND encode proteins that have a function in RNA metabolism, suggesting that disturbed RNA metabolism could be a common underlying problem in several, perhaps all, forms of MND. In the present paper we review recent developments showing a functional link between SMN (survival of motor neuron), the causative factor of SMA (spinal muscular atrophy), and FUS (fused in sarcoma), a genetic factor in ALS (amyotrophic lateral sclerosis). SMN is long known to have a crucial role in the biogenesis and localization of the spliceosomal snRNPs (small nuclear ribonucleoproteins), which are essential assembly modules of the splicing machinery. Now we know that FUS interacts with SMN and pathogenic FUS mutations have a significant effect on snRNP localization. Together with other recently published evidence, this finding potentially links ALS pathogenesis to disturbances in the splicing machinery, and implies that pre-mRNA splicing may be the common weak point in MND, although other steps in mRNA metabolism could also play a role. Certainly, further comparison of the RNA metabolism in different MND will greatly help our understanding of the molecular causes of these devastating diseases.
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Conference Article|
November 20 2013
The intriguing case of motor neuron disease: ALS and SMA come closer
Tilmann Achsel;
Tilmann Achsel
*VIB Center for the Biology of Disease and Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium
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Silvia Barabino;
Silvia Barabino
†Department of Biotechnologies and Biosciences, University of Milano-Bicocca, 20126 Milan, Italy
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Mauro Cozzolino;
Mauro Cozzolino
‡Institute for Translational Pharmacology, CNR, 00133 Rome, Italy
§Fondazione Santa Lucia IRCCS, 00179 Rome, Italy
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Maria Teresa Carrì
Maria Teresa Carrì
1
§Fondazione Santa Lucia IRCCS, 00179 Rome, Italy
∥Department of Biology, University of Rome Tor Vergata, 00133 Rome, Italy
1To whom correspondence should be addressed (emailcarri@Bio.uniroma2.it).
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Publisher: Portland Press Ltd
Received:
July 12 2013
Online ISSN: 1470-8752
Print ISSN: 0300-5127
© The Authors Journal compilation © 2013 Biochemical Society
2013
Biochem Soc Trans (2013) 41 (6): 1593–1597.
Article history
Received:
July 12 2013
Citation
Tilmann Achsel, Silvia Barabino, Mauro Cozzolino, Maria Teresa Carrì; The intriguing case of motor neuron disease: ALS and SMA come closer. Biochem Soc Trans 1 December 2013; 41 (6): 1593–1597. doi: https://doi.org/10.1042/BST20130142
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