Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.

Reena Prity Murmu, Elodie Martin, Agnès Rastetter, Typhaine Esteves, Marie-Paule Muriel, Khalid Hamid El Hachimi, Paola Silvia Denora, Aurélien Dauphin, José Carlos Fernandez, Charles Duyckaerts, Alexis Brice, Frédéric Darios, Giovanni Stevanin
Molecular and Cellular Neuroscience. 2011-07-01; 47(3): 191-202
DOI: 10.1016/j.mcn.2011.04.004

PubMed
Lire sur PubMed



1. Mol Cell Neurosci. 2011 Jul;47(3):191-202. doi: 10.1016/j.mcn.2011.04.004. Epub
2011 Apr 27.

Cellular distribution and subcellular localization of spatacsin and spastizin,
two proteins involved in hereditary spastic paraplegia.

Murmu RP(1), Martin E, Rastetter A, Esteves T, Muriel MP, El Hachimi KH, Denora
PS, Dauphin A, Fernandez JC, Duyckaerts C, Brice A, Darios F, Stevanin G.

Author information:
(1)INSERM, U975, Université Pierre et Marie Curie-Paris 6, UMR_S975, Centre de
Recherche de l’Institut du Cerveau et de la Moelle épinière (CR-icm), GHU
Pitié-Salpêtrière, CNRS, Paris, France.

Truncating mutations in the SPG11 and SPG15 genes cause complicated spastic
paraplegia, severe neurological conditions due to loss of the functions of
spatacsin and spastizin, respectively. We developed specific polyclonal
anti-spatacsin (SPG11) and anti-spastizin (SPG15) antisera, which we then used to
explore the intracellular and tissue localizations of these proteins. We observed
expression of both proteins in human and rat central nervous system, which was
particularly strong in cortical and spinal motor neurons as well as in retina.
Both proteins were also expressed ubiquitously and strongly in embryos. In
cultured cells, these two proteins had similar diffuse punctate, cytoplasmic and
sometimes nuclear (spastizin) distributions. They partially co-localized with
multiple organelles, particularly with protein-trafficking vesicles, endoplasmic
reticulum and microtubules. Spastizin was also found at the mitochondria surface.
This first study of the endogenous expression of spatacsin and spastizin shows
similarities in their expression patterns that could account for their
overlapping clinical phenotypes and involvement in a common protein complex.

Copyright © 2011 Elsevier Inc. All rights reserved.

DOI: 10.1016/j.mcn.2011.04.004
PMID: 21545838 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus