Characterization of a novel SPG3A deletion in a French-Canadian family
| Autor: | Annie Levert, Patrick A. Dion, Cynthia Soderblom, Craig Blackstone, Guy A. Rouleau, Nicolas Dupré, Inge A. Meijer, Peng-Peng Zhu, Sandra Laurent, Michel Sylvain, Jacques Puymirat, Bernard Brais, Julia Stadler |
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| Rok vydání: | 2007 |
| Předmět: |
Genetics
Atlastin 0303 health sciences Hereditary spastic paraplegia Guanosine Biology medicine.disease Spastin nervous system diseases 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine GTP-binding protein regulators Neurology Membrane protein chemistry medicine French canadian Triphosphatase Neurology (clinical) 030217 neurology & neurosurgery 030304 developmental biology |
| Zdroj: | Annals of Neurology. 61:599-603 |
| ISSN: | 0364-5134 |
| DOI: | 10.1002/ana.21114 |
| Popis: | Hereditary spastic paraplegias (HSPs) are characterized by progressive lower limb spasticity and weakness. Mutations in the SPG3A gene, which encodes the large guanosine triphosphatase atlastin, are the second most common cause of autosomal dominant hereditary spastic paraplegia. In a large SPG3A screen of 70 hereditary spastic paraplegia subjects, a novel in-frame deletion, p.del436N, was identified. Characterization of this deletion showed that it affects neither the guanosine triphosphatase activity of atlastin nor interactions between atlastin and spastin. Interestingly, immunoblot analysis of lymphoblasts from affected patients demonstrated a significant reduction in atlastin protein levels, supporting a loss-of-function disease mechanism. |
| Databáze: | OpenAIRE |
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