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| POLYGLUTAMINE EXPANSION AS A PATHOLOGICAL EPITOPE IN HUNTINGTONS-DISEASE AND 4 DOMINANT CEREBELLAR ATAXIAS |
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| Author(s): TROTTIER Y, LUTZ Y, STEVANIN G, IMBERT G, DEVYS D, CANCEL G, SAUDOU F, WEBER C, DAVID G, TORA L, AGID Y, BRICE A, MANDEL JL |
| Source: NATURE Volume: 378 Issue: 6555 Pages: 403-406 Published: NOV 23 1995 |
| Times Cited: 425 References: 31 |
| Abstract: A POLYGLUTAMINE expansion (encoded by a CAG repeat) in specific proteins causes neurodegeneration in Huntington's disease (HD) and four other disorders(1-6), by an unknown mechanism thought to involve gain of function or toxicity of the mutated protein(7,8). The pathological threshold is 37-40 glutamines in three of these diseases, whereas the corresponding normal proteins contain polymorphic repeats of up to about 35 glutamines(1-3). The age of onset of clinical manifestations is inversely correlated to the length of the polyglutamine expansion. Here we report the characterization of a monoclonal antibody that selectively recognizes polyglutamine expansion in the proteins implicated in HD and in spinocerebellar ataxia (SCA) 1 and 3. The intensity of signal depends on the length of the polyglutamine expansion, and the antibody also detects specific pathological proteins expected to contain such expansion, in SCA2 and in autosomal dominant cerebellar ataxia with retinal degeneration, whose genes have not yet been identified(9-13). |
| Document Type: Article |
| Language: English |
Addresses:
1. ULP, CNRS, INSERM, INST GENET & BIOL MOLEC CELLULAIRE, F-67404 ILLKIRCH GRAFFENSTADEN, FRANCE
2. HOP LA PITIE SALPETRIERE, INSERM, U289, F-75651 PARIS 13, FRANCE |
| Publisher: MACMILLAN MAGAZINES LTD, 4 LITTLE ESSEX STREET, LONDON, ENGLAND WC2R 3LF |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: TF893 |
| ISSN: 0028-0836 |
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