Butyrylcholinesterase K variant and apolipoprotein E4 genes do not act in synergy in Finnish late-onset Alzheimer's disease patients
Section snippets
Acknowledgements
The authors thank Ms. Marjo Heikkinen and Ms. Seija Hynynen for their excellent technical help. The study was supported by the Health Research Council of the Academy of Finland and an EVO grant (5032) of Kuopio University Hospital.
References (19)
- et al.
Ultrastructual localization of butyrylcholinesterase on neurofibrillary degeneration sites in the brains of aged and Alzheimer's disease patients
Brain Res.
(1994) Apolipoprotein E in animal models of CNS injury and Alzheimer's disease
Trends. Neurosci.
(1994)- et al.
A severe loss of choline acetyltransferase in the frontal cortex of Alzheimer patients carrying apolipoprotein ϵ4 allele
Neurosci. Lett.
(1995) - et al.
Molecular forms of acetylcholinesterase and butyrylcholinesterase in the aged human central nervous system
J. Neurochem.
(1986) - et al.
DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites
Am. J. Hum. Genet.
(1992) - et al.
Gene dose of apolipoprotein E type ϵ4 allele and the risk of Alzheimer's disease in late onset families
Science
(1993) - et al.
Butyrylcholinesterase in the life cycle of amyloid plaques
Ann. Neurol.
(1997) - et al.
Detection of the plasma cholinesterase K variant by PCR using an amplification-created restriction site
Hum. Hered.
(1996) Linkage disequilibrium as a gene-mapping tool
Am. J. Hum. Genet.
(1995)
Cited by (39)
Association between butyrylcholinesterase and cerebrospinal fluid biomarkers in Alzheimer's disease patients
2017, Neuroscience LettersCitation Excerpt :In relation to the BuChE polymorphism, our patient and control population showed a frequency of the K allele and a genotype distribution that is very similar to what has been previously described in other cohorts from Northern Spain [1], and also in the Canary Islands [18] and the United States of America [27]. On the contrary, patients from Australia [39], have shown a higher K allele frequency (24–32%), while patients from Finland [25] or China [30] have a lower reported K allele frequency (10–14%). No significant association between BuChE-K variant and AD risk was found.
Butyrylcholinesterase-knockout reduces brain deposition of fibrillar β-amyloid in an Alzheimer mouse model
2015, NeuroscienceCitation Excerpt :Investigations of this BCHE variant have observed that its presence pre-empts progression of AD (Sandbrink et al., 1998; O’Brien et al., 2003). However, other studies have suggested that this variant is associated with AD (Tilley et al., 1999; Wiebusch et al., 1999; Lehmann et al., 2000; Lehmann et al., 2001; McIlroy et al., 2000) and still others have observed no association of BCHE-K variant with AD (Hiltunen et al., 1998; Kehoe et al., 1998; Singleton et al., 1998; Grubber et al., 1999; Ki et al., 1999; Yamamoto et al., 1999). This suggests that the role(s) of BChE in AD may involve other components of the disease and requires further scrutiny.
Alanine-to-threonine substitutions and amyloid diseases: Butyrylcholinesterase as a case study
2010, Chemico-Biological InteractionsCitation Excerpt :An on-going debate discusses BChE-K's association with the debilitated Apolipoprotein ɛ4 protein known to confer an increased risk of AD. Several reports suggested a synergy between the BChE-K and APO E4 genes in AD, while others showed the opposite [58,59]. Yet other studies argued that BCHE-K confers an increased risk of developing AD-related neuropathology which is independent of the BChE-K-ApoE association [60].
Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene
2007, Molecular Genetics and Metabolism