Genetic polymorphisms and cerebrospinal fluid levels of tissue inhibitor of metalloproteinases 1 in sporadic Alzheimerʼs disease
| Autor: | Johannes Streffer, M. Axel Wollmer, Luigi M.E. Grimaldi, Ulrike Lemke, Roger M. Nitsch, Daniel Umbricht, Andreas Papassotiropoulos, Alessia Maddalena, Giuliana Salani, Simone Bosshardt, Hans H. Jung, George P. Paraskevas, Katharina Henke, Christoph Hock, Claudia Bieber, Elisabeth Kapaki, Thomas Hegi, Dominique J.-F. de Quervain, Nadia Degonda, Thomas Pasch |
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| Přispěvatelé: | University of Zurich, Wollmer, M A |
| Rok vydání: | 2002 |
| Předmět: |
Male
2716 Genetics (clinical) medicine.medical_specialty ADAM10 610 Medicine & health Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Pathogenesis 2738 Psychiatry and Mental Health Gene Frequency 1311 Genetics Alzheimer Disease Reference Values Internal medicine Genotype Genetics Genetic predisposition medicine Humans Genetic variability Biological Psychiatry Genetics (clinical) X chromosome Chromosomes Human X Metalloproteinase Polymorphism Genetic Tissue Inhibitor of Metalloproteinase-1 Chromosome Mapping Genetic Variation DNA 11359 Institute for Regenerative Medicine (IREM) Molecular biology Psychiatry and Mental health Endocrinology Female 5' Untranslated Regions 2803 Biological Psychiatry |
| Zdroj: | Psychiatric Genetics. 12:155-160 |
| ISSN: | 0955-8829 |
| Popis: | Tissue inhibitor of metalloproteinases 1 (TIMP-1) inhibits several proteinases including a disintegrin and metalloproteinase 10 (ADAM10), a major alpha-secretase that cleaves the beta-amyloid precursor protein within its amyloidogenic Abeta domain. The gene encoding TIMP-1 (TIMP 1) maps to the short arm of the X chromosome, in a region previously suggested as conferring genetic susceptibility for Alzheimer's disease (AD). To determine whether genetic variability of TIMP 1 contributes to the pathogenesis of AD, we analysed one single nucleotide polymorphism within TIMP 1 and one single nucleotide polymorphism in the 5'-untranslated region of TIMP 1 in patients with AD and control subjects from two independent and ethnically different populations. We did not observe any association between TIMP 1 genotypes and the diagnosis of AD in men or women. We also measured TIMP-1 protein levels in the cerebrospinal fluid of patients with AD, healthy control subjects, and patients with other neurological disorders. TIMP-1 levels were similar in all groups. In addition, no significant differences were observed after stratification for TIMP 1 genotypes. Our data show that neither genetic variability nor protein levels of TIMP-1 are associated with AD. |
| Databáze: | OpenAIRE |
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