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

Επιστημονική δημοσίευση - Άρθρο Περιοδικού uoadl:3082323 25 Αναγνώσεις

Μονάδα:
Ερευνητικό υλικό ΕΚΠΑ
Τίτλος:
Genetic polymorphisms and cerebrospinal fluid levels of tissue inhibitor
of metalloproteinases 1 in sporadic Alzheimer's disease
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Tissue inhibitor of metalloproteinases I (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 (TIMP1)
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 TIMP1 contributes to
the pathogenesis of AD, we analysed one single nucleotide polymorphism
within TIMP1 and one single nucleotide polymorphism in the
5’-untranslated region of TIMP1 in patients with AD and control subjects
from two independent and ethnically different populations. We did not
observe any association between TIMP1 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-I levels were similar
in all groups. In addition, no significant differences were observed
after stratification for TIMP1 genotypes. Our data show that neither
genetic variability nor protein levels of TIMP-1 are associated with AD.
(C) 2002 Lippincott Williams Wilkins.
Έτος δημοσίευσης:
2002
Συγγραφείς:
Wollmer, MA
Papassotiropoulos, A
Streffer, JR
Grimaldi, LME
and Kapaki, E
Salani, G
Paraskevas, GP
Maddelena, A
de
Quervain, D
Bieber, C
Umbricht, D
Lemke, U
Bosshardt, S
and Degonda, N
Henke, K
Hegi, T
Jung, HH
Pasch, T and
Hock, C
Nitsch, RM
Περιοδικό:
Psychiatric Genetics
Εκδότης:
Lippincott, Williams & Wilkins
Τόμος:
12
Αριθμός / τεύχος:
3
Σελίδες:
155-160
Λέξεις-κλειδιά:
tissue inhibitor of metalloproteinases 1; Alzheimer’s disease;
beta-amyloid; genetic association; single nucleotide polymorphism;
haplotype analysis
Επίσημο URL (Εκδότης):
DOI:
10.1097/00041444-200209000-00006
Το ψηφιακό υλικό του τεκμηρίου δεν είναι διαθέσιμο.