Genetic marker for the diagnosis of dementia with lewy bodies

A technology for dementia with Lewy bodies and biological samples, applied in the medical field, can solve the problem of no significant correlation between DLB phenotypes, and achieve the effect of reducing death and increasing specificity

Inactive Publication Date: 2014-04-30
AUTONOMOUS UNIVERSITY OF BARCELONA +1
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Problems solved by technology

However, recent studies have shown no significant association between the BChE K variant and the DLB phenotype of dementia (see W. Maetzler et al., "No differences of butyrylcholinesterase protein activity and allele frequency in Lewy body diseases", Neurobiol. Dis .2009, Vol. 35, pp. 296-301)

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  • Genetic marker for the diagnosis of dementia with lewy bodies
  • Genetic marker for the diagnosis of dementia with lewy bodies
  • Genetic marker for the diagnosis of dementia with lewy bodies

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Embodiment Construction

[0056] Post-mortem sample

[0057] Post-mortem frontal cortex samples and their clinical and neuropathological diagnoses were assisted by the Bellvitge Institute (BrainNet Europe) of the Neurological Tissue Bank and Neuropathology Brain Bank of the University of Barcelona (BrainNet Europe) in accordance with established rules of the local ethics committee. It corresponds to 24 brains with common Lewy body disease (cLBD) (age at death: 79.9, age range from 64 to 90; female to male ratio 1.5:1), 12 brains with pure Lewy body dementia (pDLB) ( Age at death: 74.4, age range from 60 to 80; female to male ratio 1:2), 26 AD brains (age at death: 78.1, age range from 61 to 95; female to male ratio 1:1.1), and 23 controls brain (age at death: 68.5, age range from 54 to 83; female to male ratio 1:1.1).

[0058] Neuropathological examination found that all AD brains showed Braak and Braak's AD stage VI. Braak and Braak are stages to assess / quantify AD in the brain. It is used by neu...

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Abstract

Specific polymorphisms in BChE gene have been found which allow determining whether a patient suffers from dementia with Lewy bodies (DLB), and allow distinguishing it from Alzheimer's disease. The invention provides an in vitro method for the diagnosis of DLB comprising determining in a biological sample from a subject, the genotype of the following polymorphisms in butyrylcholinesterase (BChE) gene: the polymorphic site at position 3687 in NCBI Accession Number NG_009031 (i.e. SEQ ID NO: 1 ) the polymorphic site at position 4206 in SEQ ID NO: 1, the polymorphic site at position 4443 in SEQ ID NO: 1. and the polymorphic site at position 68974 in NCBI Accession Number NG_009031 (i.e. position 934 in SEQ ID NO: 26).

Description

[0001] The present invention relates to the field of medicine, and in particular to neurodegenerative diseases. It particularly relates to markers for the diagnosis of dementia with Lewy bodies. Background technique [0002] Lewy body diseases include a group of disorders characterized by the presence of protein neuronal inclusions called Lewy bodies (LB). Clinically, two disorders can be distinguished: Parkinson's disease (PD) and dementia with Lewy bodies (DLB). While PD is the most common progressive movement disorder in the elderly, DLB is the second most common cause of dementia after Alzheimer's disease (AD). Although the ubiquitous distribution of LB in almost every brain region is typical of DLB, the substantia nigra is the most affected in PD. [0003] When DLB was first described, it was considered a rare disease, but careful investigation over the past few years has found it to account for 10% to 15% of autopsy cases. Primary DLB symptoms include fluctuating cogn...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q2600/156C12Q2539/10C12Q1/6883C12Q2600/158C12Q1/6813
Inventor K·拜尔蒙特塞拉特·多明戈奥雷利奥·阿里萨
Owner AUTONOMOUS UNIVERSITY OF BARCELONA
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