Skip to main content
Erschienen in: Neurological Sciences 6/2010

01.12.2010 | Original Article

Analysis of association between bleomycin hydrolase and apolipoprotein E polymorphism in Alzheimer’s disease

verfasst von: Mohamed Ali Smach, Bassem Charfeddine, Turkia Lammouchi, Leila Ben Othman, Afef Letaief, Souhir Nafati, Hedi Dridi, Soufien Bennamou, Khalifa Limem

Erschienen in: Neurological Sciences | Ausgabe 6/2010

Einloggen, um Zugang zu erhalten

Abstract

Alzheimer’s disease (AD) is the leading cause of dementia. Several studies indicate a possible relationship between different genes and Alzheimer’s disease. To further investigate, we have analyzed the association between the bleomycin hydrolase (BLMH) and apolipoprotein E (ApoE) polymorphisms in 93 AD patients and age- and sex-matched 113 controls from the Tunisian population. The frequency of ApoE epsilon 4 allele was found to differ significantly in AD patients compared to the control [29.5% vs. 8.8 (χ 2 = 26, df = 1, p < 0.001)] leading to an increased risk of AD in subjects with this allele (OR = 3.29, 95% CI = 1.7–6.5; p = 0.001]. This risk was found to decrease from OR = 8.4, CI = 3.3–23; p < 0.001 in subjects less than 75 years old to OR = 1.2, CI = 1.031–14; p = 0.0297 in subjects 75 years and older. No association was observed between carrying the BLMH-G genotype and AD in ε4 negative or positive subjects.
Literatur
2.
Zurück zum Zitat Strittmattet WJ, Roses AD (1995) Apolipoprotein E and Alzheimer disease. Proc Natl Acad Sci USA 92(47):25–27 Strittmattet WJ, Roses AD (1995) Apolipoprotein E and Alzheimer disease. Proc Natl Acad Sci USA 92(47):25–27
3.
Zurück zum Zitat Montoya SE, Ferrell RE, Lazo JS (1997) Genomic structure and genetic mapping of the human neutral cysteine protease bleomycin hydrolase. Cancer Res 57:4191–4195PubMed Montoya SE, Ferrell RE, Lazo JS (1997) Genomic structure and genetic mapping of the human neutral cysteine protease bleomycin hydrolase. Cancer Res 57:4191–4195PubMed
4.
Zurück zum Zitat Papassotiropoulos A, Bagli M, Jessen F, Frahnert C, Rao ML, Maier W, Heun R (2000) Confirmation of the association between bleomycin hydrolase genotype and Alzheimer’s disease. Mol Psychiatry 5:213–215CrossRefPubMed Papassotiropoulos A, Bagli M, Jessen F, Frahnert C, Rao ML, Maier W, Heun R (2000) Confirmation of the association between bleomycin hydrolase genotype and Alzheimer’s disease. Mol Psychiatry 5:213–215CrossRefPubMed
5.
Zurück zum Zitat Malherbe P, Faull RL, Richards JG (2000) Regional and cellular distribution of bleomycin hydrolase mRNA in human brain: comparison between Alzheimer’s disease and control brains. Neurosci Lett 3 281(1):37–40CrossRef Malherbe P, Faull RL, Richards JG (2000) Regional and cellular distribution of bleomycin hydrolase mRNA in human brain: comparison between Alzheimer’s disease and control brains. Neurosci Lett 3 281(1):37–40CrossRef
6.
Zurück zum Zitat Montoya SE, Aston CE, DeKosky ST, Kamboh MI, Lazo JS, Ferrell RE (1998) Bleomycin hydrolase is associated with risk of sporadic Alzheimer’s disease. Nat Genet 18:211–212CrossRefPubMed Montoya SE, Aston CE, DeKosky ST, Kamboh MI, Lazo JS, Ferrell RE (1998) Bleomycin hydrolase is associated with risk of sporadic Alzheimer’s disease. Nat Genet 18:211–212CrossRefPubMed
7.
Zurück zum Zitat Brömme D, Rossi AB, Smeekens SP, Anderson DC, Payan DG (1996) Human bleomycin hydrolase: molecular cloning, sequencing, functional expression and enzymatic characterization. Biochemistry 35:6706–6714CrossRefPubMed Brömme D, Rossi AB, Smeekens SP, Anderson DC, Payan DG (1996) Human bleomycin hydrolase: molecular cloning, sequencing, functional expression and enzymatic characterization. Biochemistry 35:6706–6714CrossRefPubMed
8.
Zurück zum Zitat O’Farrell PA, Gonzalez F, Zheng W, Johnston SA, Joshua-Tor L (1999) Crystal structure of human bleomycin hydrolase, a self-compartmentalizing cysteine protease. Structure 7(6):619–627CrossRefPubMed O’Farrell PA, Gonzalez F, Zheng W, Johnston SA, Joshua-Tor L (1999) Crystal structure of human bleomycin hydrolase, a self-compartmentalizing cysteine protease. Structure 7(6):619–627CrossRefPubMed
9.
Zurück zum Zitat Lefterov MI, Koldamova RP, Lazo JS (2000) Human bleomycin hydrolase regulates the secretion of amyloid precursor protein. FASEB J 14:1837–1847CrossRefPubMed Lefterov MI, Koldamova RP, Lazo JS (2000) Human bleomycin hydrolase regulates the secretion of amyloid precursor protein. FASEB J 14:1837–1847CrossRefPubMed
10.
Zurück zum Zitat Chang T, Abraham CR (1996) A novel brain cysteine protease forms an SDS stable complex with the beta-amyloid precursor protein. Ann NY Acad Sci 777:183–188CrossRefPubMed Chang T, Abraham CR (1996) A novel brain cysteine protease forms an SDS stable complex with the beta-amyloid precursor protein. Ann NY Acad Sci 777:183–188CrossRefPubMed
11.
Zurück zum Zitat Raina AK, Takeda A, Nunomura A, Perry G, Smith MA (1999) Genetic evidence for oxidative stress in Alzheimer’s disease. Neuroreport 10(6):1355–1357CrossRefPubMed Raina AK, Takeda A, Nunomura A, Perry G, Smith MA (1999) Genetic evidence for oxidative stress in Alzheimer’s disease. Neuroreport 10(6):1355–1357CrossRefPubMed
12.
Zurück zum Zitat Namba Y, Ouchi Y, Hattori H, Asada T, Ueki A, Ikeda K (1999) Lack of association between bleomycin hydrolase gene polymorphism and Alzheimer’s disease in Japanese people. Ann Neurol 46:136–137CrossRefPubMed Namba Y, Ouchi Y, Hattori H, Asada T, Ueki A, Ikeda K (1999) Lack of association between bleomycin hydrolase gene polymorphism and Alzheimer’s disease in Japanese people. Ann Neurol 46:136–137CrossRefPubMed
13.
Zurück zum Zitat Hu CJ, Sung SM, Liu HC et al (2001) Genetic risk factors of sporadic Alzheimer’s disease among Chinese in Taiwan. J Neurol Sci 18:127–131 Hu CJ, Sung SM, Liu HC et al (2001) Genetic risk factors of sporadic Alzheimer’s disease among Chinese in Taiwan. J Neurol Sci 18:127–131
14.
Zurück zum Zitat Nivet Antoine V, Coulhon MP, Le Denmat C, Hamon B, Dulcire X, Lefebvre M, Piette F, Davous P, Durand D, Duchassaing D (2003) Maladies neurodégénératives et polymorphisme des gènes de l’apolipoprotéine E et de la bléomycine Hydrolase. Ann Biol Clin 61:61–67 Nivet Antoine V, Coulhon MP, Le Denmat C, Hamon B, Dulcire X, Lefebvre M, Piette F, Davous P, Durand D, Duchassaing D (2003) Maladies neurodégénératives et polymorphisme des gènes de l’apolipoprotéine E et de la bléomycine Hydrolase. Ann Biol Clin 61:61–67
15.
Zurück zum Zitat Farrer LA, Abraham CR, Haines JL, Rogaeva EA, Song Y, McGraw WT, Brindle N, Premkumar S, Scott WK, Yamaoka LH et al (1998) Association between bleomycin hydrolase and Alzheimer’s disease in Caucasians. Ann Neurol 44(5):808–811CrossRefPubMed Farrer LA, Abraham CR, Haines JL, Rogaeva EA, Song Y, McGraw WT, Brindle N, Premkumar S, Scott WK, Yamaoka LH et al (1998) Association between bleomycin hydrolase and Alzheimer’s disease in Caucasians. Ann Neurol 44(5):808–811CrossRefPubMed
16.
Zurück zum Zitat McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer’s disease: report of the NINCDS–ADRDA work group under the auspices of Department of Health and Human Services Task Force on Alzheimer ’s Disease. Neurology 34(7):939–944PubMed McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer’s disease: report of the NINCDS–ADRDA work group under the auspices of Department of Health and Human Services Task Force on Alzheimer ’s Disease. Neurology 34(7):939–944PubMed
17.
Zurück zum Zitat Wenham PR, Price WH, Blandell G (1991) Apolipoprotein E genotyping by one-stage PCR. Lancet 337:1158–1159CrossRefPubMed Wenham PR, Price WH, Blandell G (1991) Apolipoprotein E genotyping by one-stage PCR. Lancet 337:1158–1159CrossRefPubMed
18.
Zurück zum Zitat Namba Y, Ouchi Y, Takeda A, Ueki A, Ikeda K (1999) Bleomycin hydrolase immunoreactivity in senile plaque in the brain of patients with Alzheimer’s disease. Brain Res 830:200–202CrossRefPubMed Namba Y, Ouchi Y, Takeda A, Ueki A, Ikeda K (1999) Bleomycin hydrolase immunoreactivity in senile plaque in the brain of patients with Alzheimer’s disease. Brain Res 830:200–202CrossRefPubMed
19.
Zurück zum Zitat Poirier J (2005) Apolipoprotein E, cholesterol transport and synthesis in sporadic Alzheimer’s disease. Neurobiol Aging 26:355–361CrossRefPubMed Poirier J (2005) Apolipoprotein E, cholesterol transport and synthesis in sporadic Alzheimer’s disease. Neurobiol Aging 26:355–361CrossRefPubMed
20.
Zurück zum Zitat Thome J, Gewirtz JC, Sakai N, Zachariou V, Retz-Junginger P, Retz W, Duman RS, Rösler M (1999) Polymorphisms of the human apolipoprotein E promoter and bleomycin hydrolase gene: risk factors for Alzheimer’s dementia? Neurosci Lett 274:37–40CrossRefPubMed Thome J, Gewirtz JC, Sakai N, Zachariou V, Retz-Junginger P, Retz W, Duman RS, Rösler M (1999) Polymorphisms of the human apolipoprotein E promoter and bleomycin hydrolase gene: risk factors for Alzheimer’s dementia? Neurosci Lett 274:37–40CrossRefPubMed
21.
Zurück zum Zitat Llorca J, Rodríguez-Rodríguez E, Dierssen-Sotos T, Delgado-Rodríguez M, Berciano J, Combarros O (2008) Meta-analysis of genetic variability in the beta-amyloid production, aggregation and degradation metabolic pathways and the risk of Alzheimer’s disease. Acta Neurol Scand: 1171–14 Llorca J, Rodríguez-Rodríguez E, Dierssen-Sotos T, Delgado-Rodríguez M, Berciano J, Combarros O (2008) Meta-analysis of genetic variability in the beta-amyloid production, aggregation and degradation metabolic pathways and the risk of Alzheimer’s disease. Acta Neurol Scand: 1171–14
22.
Zurück zum Zitat Prince JA, Feuk L, Sawyer SL, Ottfries JG, Ricksten A, Nägga K, Bogdanovic N, Blennow K, Brookes AJ (2001) Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer’s disease. Eur J Hum Genet 9:437–444CrossRefPubMed Prince JA, Feuk L, Sawyer SL, Ottfries JG, Ricksten A, Nägga K, Bogdanovic N, Blennow K, Brookes AJ (2001) Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer’s disease. Eur J Hum Genet 9:437–444CrossRefPubMed
23.
Zurück zum Zitat Elbaz A, Dufouil C, Alpérovitch A (2007) Interaction between genes and environment in neurodegenerative diseases. C R Biol 330:318–328CrossRefPubMed Elbaz A, Dufouil C, Alpérovitch A (2007) Interaction between genes and environment in neurodegenerative diseases. C R Biol 330:318–328CrossRefPubMed
24.
Zurück zum Zitat Smach MA, Charfeddine B, Lammouchi T, Harrabi I, Ben Othman L, Dridi H, Bennamou S, Limem K (2008) CSF beta-amyloid 1–42 and tau in Tunisian patients with Alzheimer’s disease: the effect of APOE epsilon4 allele. Neurosci Lett 440(2):145–149CrossRefPubMed Smach MA, Charfeddine B, Lammouchi T, Harrabi I, Ben Othman L, Dridi H, Bennamou S, Limem K (2008) CSF beta-amyloid 1–42 and tau in Tunisian patients with Alzheimer’s disease: the effect of APOE epsilon4 allele. Neurosci Lett 440(2):145–149CrossRefPubMed
25.
Zurück zum Zitat Lahlahi Kacem N, Bamou Y, Guedira A, Hassani M, Visvikis G, Siest G, Alami N, Kabbaj O, Lahrichi M (2002) Apolipoprotein E polymorphism in Moroccan population: allele frequencies and relation to plasma lipid concentrations. Ann Biol Clin 60(1):73–80 Lahlahi Kacem N, Bamou Y, Guedira A, Hassani M, Visvikis G, Siest G, Alami N, Kabbaj O, Lahrichi M (2002) Apolipoprotein E polymorphism in Moroccan population: allele frequencies and relation to plasma lipid concentrations. Ann Biol Clin 60(1):73–80
26.
Zurück zum Zitat Raygani AV, Zahrai M, Raygani AV, Doosti M, Javadi E, Rezaei M, Pourmotabbed T (2005) Association between apolipoprotein E polymorphism and Alzheimer disease in Tehran, Iran. Neurosci Lett: 1–6 Raygani AV, Zahrai M, Raygani AV, Doosti M, Javadi E, Rezaei M, Pourmotabbed T (2005) Association between apolipoprotein E polymorphism and Alzheimer disease in Tehran, Iran. Neurosci Lett: 1–6
27.
Zurück zum Zitat Valveny N, Esteban EM, Kandi MI, Moral P (1997) ApoE polymorphism in Spanish and Moroccan populations. Clin Genet 51:354–356CrossRefPubMed Valveny N, Esteban EM, Kandi MI, Moral P (1997) ApoE polymorphism in Spanish and Moroccan populations. Clin Genet 51:354–356CrossRefPubMed
Metadaten
Titel
Analysis of association between bleomycin hydrolase and apolipoprotein E polymorphism in Alzheimer’s disease
verfasst von
Mohamed Ali Smach
Bassem Charfeddine
Turkia Lammouchi
Leila Ben Othman
Afef Letaief
Souhir Nafati
Hedi Dridi
Soufien Bennamou
Khalifa Limem
Publikationsdatum
01.12.2010
Verlag
Springer Milan
Erschienen in
Neurological Sciences / Ausgabe 6/2010
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-010-0234-4

Weitere Artikel der Ausgabe 6/2010

Neurological Sciences 6/2010 Zur Ausgabe

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Stuhltransfusion könnte Fortschreiten von Parkinson-Symptomen bremsen

03.05.2024 Parkinson-Krankheit Nachrichten

Kann eine frühzeitige Stuhltransplantation das Fortschreiten von Parkinson-Symptomen verlangsamen? Die Ergebnisse einer randomisierten Phase-2-Studie scheinen dafür zu sprechen.

Frühe Tranexamsäure-Therapie nützt wenig bei Hirnblutungen

02.05.2024 Hirnblutung Nachrichten

Erhalten Personen mit einer spontanen Hirnblutung innerhalb von zwei Stunden nach Symptombeginn eine Tranexamsäure-Therapie, kann dies weder die Hämatomexpansion eindämmen noch die Mortalität senken.

Sind Frauen die fähigeren Ärzte?

30.04.2024 Gendermedizin Nachrichten

Patienten, die von Ärztinnen behandelt werden, dürfen offenbar auf bessere Therapieergebnisse hoffen als Patienten von Ärzten. Besonders scheint das auf weibliche Kranke zuzutreffen, wie eine Studie zeigt.

Akuter Schwindel: Wann lohnt sich eine MRT?

28.04.2024 Schwindel Nachrichten

Akuter Schwindel stellt oft eine diagnostische Herausforderung dar. Wie nützlich dabei eine MRT ist, hat eine Studie aus Finnland untersucht. Immerhin einer von sechs Patienten wurde mit akutem ischämischem Schlaganfall diagnostiziert.

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.