遗传性 spastic paraplegia protein spartin 位于线粒体.pdfVIP

Journal of Neurochemistry, 2006, 98, 1908–1919 doi:10.1111/j.1471-4159.2006.04008.x The hereditary spastic paraplegia protein spartin localises to mitochondria JianPing Lu, Faiza Rashid and Paula C. Byrne UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Ireland Abstract the C-terminal region. Mutant spartin containing the Hereditary spastic paraplegia describes a diverse group of 1110delA mutation has lost mitochondrial localization. Im- disorders characterized by progressive paraparesis primarily munocytochemistry staining using anti-alpha-tubulin antibody affecting lower limbs. In Troyer syndrome, an autosomal provided evidence for partial co-localization of spartin with recessive form of hereditary spastic paraplegia, patients microtubules. Analysis of fluorescence resonance energy have dysarthria, distal amyotrophy, developmental delay and transfer indicated that sequences in the amino terminal are short stature in addition to spastic paraparesis. It is caused important in mediating microtubule interaction. This study by a frameshift mutation (1110delA) in SPG20 leading to provides the first evidence of spartin subcellular localization premature truncation of spartin, a protein with no known and identifies it as the third mitochondrial protein implicated function. The objective of this study was to determine the in hereditary spastic paraplegia. Our results suggest that subcellular localization of spartin and investigate the effect Troyer syndrome may be due to defective microtubule- of the 1110delA mutation.