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| J. Neurochem. Sep (2006); 98(6):1908-19 | |
| The hereditary spastic paraplegia protein spartin localises to mitochondria- | |
| Lu J, Rashid F, Byrne PC | |
| UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Ireland- | |
| Abstract: Hereditary spastic paraplegia describes a diverse group of disorders characterized by progressive paraparesis primarily affecting lower limbs- In Troyer syndrome, an autosomal recessive form of hereditary spastic paraplegia, patients have dysarthria, distal amyotrophy, developmental delay and short stature in addition to spastic paraparesis- It is caused by a frameshift mutation -1110delA- in SPG20 leading to premature truncation of spartin, a protein with no known function- The objective of this study was to determine the subcellular localization of spartin and investigate the effect of the 1110delA mutation- We observed cytoplasmic expression of spartin in all transfected cell lines- Using superimposed organelle markers or immunocytochemistry staining, we established that spartin localizes to mitochondria and that this localization is dependent on sequences in the C-terminal region- Mutant spartin containing the 1110delA mutation has lost mitochondrial localization- Immunocytochemistry staining using anti-alpha-tubulin antibody provided evidence for partial co-localization of spartin with microtubules- Analysis of fluorescence resonance energy transfer indicated that sequences in the amino terminal are important in mediating microtubule interaction- This study provides the first evidence of spartin subcellular localization and identifies it as the third mitochondrial protein implicated in hereditary spastic paraplegia- Our results suggest that Troyer syndrome may be due to defective microtubule-mediated trafficking of mitochondria and-or mitochondrial dysfunction- | |
| [PUBMED: 16945107] |   |
| Copyright © 2009, Tyers Lab, The Samuel Lunenfeld Research Institute, Mount Sinai Hospital, All Rights Reserved. |
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| BioGRID: A General Repository for Interaction Datasets. Chris Stark, Bobby-Joe Breitkreutz, Teresa Reguly, Lorrie Boucher, Ashton Breitkreutz, Mike Tyers. Nucleic Acids Res. Jan 1;34:D535-9. |