DOI: 10.1126/science.1155085. Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

10.1126/science.1155085

Crossref journal-article

American Association for the Advancement of Science (AAAS)

Science (221)

Abstract

Homozygous deletion of the survival motor neuron 1 gene ( SMN1 ) causes spinal muscular atrophy (SMA), the most frequent genetic cause of early childhood lethality. In rare instances, however, individuals are asymptomatic despite carrying the same SMN1 mutations as their affected siblings, thereby suggesting the influence of modifier genes. We discovered that unaffected SMN1 -deleted females exhibit significantly higher expression of plastin 3 ( PLS3 ) than their SMA-affected counterparts. We demonstrated that PLS3 is important for axonogenesis through increasing the F-actin level. Overexpression of PLS3 rescued the axon length and outgrowth defects associated with SMN down-regulation in motor neurons of SMA mouse embryos and in zebrafish. Our study suggests that defects in axonogenesis are the major cause of SMA, thereby opening new therapeutic options for SMA and similar neuromuscular diseases.

Bibliography

Oprea, G. E., KroÌber, S., McWhorter, M. L., Rossoll, W., MuÌller, S., Krawczak, M., Bassell, G. J., Beattie, C. E., & Wirth, B. (2008). Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy. Science, 320(5875), 524â527.

Authors 9

Gabriela E. Oprea (first)
Sandra Kröber (additional)
Michelle L. McWhorter (additional)
Wilfried Rossoll (additional)
Stefan Müller (additional)
Michael Krawczak (additional)
Gary J. Bassell (additional)
Christine E. Beattie (additional)
Brunhilde Wirth (additional)

References 25 Referenced 422

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We thank SMA families and genetic counselors especially S. Rudnik-Schöneborn and K. Zerres; J. L. Schultze S. Debey P. Nürnberg M. Reza-Toliat F. Rivero-Crespo and F.G. Hanisch at the Univ. of Cologne for allowing us to use their facilities and for helpful advice; G. Morris (Oswestry UK) for the mouse anti-survival motor neurons proteins 1 antibody; and B. Wollnik C. Kubisch and R. Heller for critical reading of the manuscript. This work was supported by the Center for Molecular Medicine Cologne and the Deutsche Forschungsgemeinschaft (B.W.) families of SMA (W.R. and M.L.M.) and NIH grants RO1NS50414 (C.E.B.) and HD055835 (G.J.B.).

Dates

Type	When
Created	17 years, 4 months ago (April 25, 2008, 1:16 p.m.)
Deposited	1 year, 7 months ago (Jan. 10, 2024, 3:36 a.m.)
Indexed	2 months ago (June 24, 2025, 10:24 a.m.)
Issued	17 years, 4 months ago (April 25, 2008)
Published	17 years, 4 months ago (April 25, 2008)
Published Print	17 years, 4 months ago (April 25, 2008)

Funders 0

None

BibTeX

@article{Oprea_2008, title={Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy}, volume={320}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.1155085}, DOI={10.1126/science.1155085}, number={5875}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Oprea, Gabriela E. and Kröber, Sandra and McWhorter, Michelle L. and Rossoll, Wilfried and Müller, Stefan and Krawczak, Michael and Bassell, Gary J. and Beattie, Christine E. and Wirth, Brunhilde}, year={2008}, month=apr, pages={524–527} }

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