Details

Autor(en) / Beteiligte

• Wollmer, M Axel
• Papassotiropoulos, Andreas
• Streffer, Johannes R
• Grimaldi, Luigi M E
• Kapaki, Elisabeth
• Salani, Giuliana
• Paraskevas, George P
• Maddalena, Alessia
• de Quervain, Dominique
• Bieber, Claudia
• Umbricht, Daniel
• Lemke, Ulrike
• Bosshardt, Simone
• Degonda, Nadia
• Henke, Katharina
• Hegi, Thomas
• Jung, Hans H
• Pasch, Thomas
• Hock, Christoph
• Nitsch, Roger M

Titel

Genetic polymorphisms and cerebrospinal fluid levels of tissue inhibitor of metalloproteinases 1 in sporadic Alzheimer's disease

Ist Teil von

• Psychiatric genetics, 2002-09, Vol.12 (3), p.155-160

Ort / Verlag

England

Erscheinungsjahr

2002

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.