BCHE Gene - Butyrylcholinesterase

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BCHE Gene - Butyrylcholinesterase

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">BCHE — Butyrylcholinesterase</th>
</tr>
<tr> [@butyrylcholinesterase2020]
<td class="label">Symbol</td> [@vascular2010]
<td><strong>BCHE</strong></td> [@bchek2009]
</tr> [@plasma2013]
<tr> [@butyrylcholinesterase2012]
<td class="label">Full Name</td> [@dual2016]
<td>Butyrylcholinesterase (Pseudocholinesterase)</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>3q26.1-q26.2</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/163" target="_blank">163</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000114200" target="_blank">ENSG00000114200</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/177400" target="_blank">177400</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/P06276" target="_blank">P06276</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Alzheimer's Disease](/diseases/alzheimers-disease), [Mild Cognitive Impairment](/diseases/mild-cognitive-impairment)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Liver, Brain (cerebral cortex, hippocampus, basal forebrain), Serum</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/alzheimer" style="color:#ef9a9a">ALZHEIMER</a>, <a href="/wiki/alzheimer's-disea

...

BCHE Gene - Butyrylcholinesterase

BCHE — Butyrylcholinesterase

Introduction

Bche Gene Butyrylcholinesterase is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

Mermaid diagram (expand to render)

BCHE (Butyrylcholinesterase, also known as pseudocholinesterase or BuChE) is a gene located on chromosome 3q26.1-q26.2 that encodes the enzyme butyrylcholinesterase, a member of the cholinesterase family [@butyrylcholinesterase2013]. BCHE is approximately 7.5 kilobases long and contains 4 exons. The encoded protein is a 574-amino acid glycoprotein synthesized primarily in the liver and secreted into the plasma [@liver2008].

While traditionally studied for its role in drug metabolism (particularly suxamethonium hydrolysis), BCHE has emerged as an important modulator of neurodegenerative processes, particularly in Alzheimer's Disease (AD) [@role2005]. The BCHE enzyme hydrolyzes [acetylcholine](/entities/acetylcholine) and other choline esters, serving as a secondary cholinergic system that becomes more important when acetylcholinesterase activity declines [@cholinergic2015].

Function

Normal Cholinergic Function

Butyrylcholinesterase (BuChE) is a serine hydrolase that catalyzes the hydrolysis of acetylcholine (ACh), butyrylcholine, and other choline esters [@butyrylcholinesterase2013]. Unlike acetylcholinesterase (AChE), which is primarily localized at neuronal synapses, BuChE is found in:

Plasma — the major source of circulating BuChE
Liver — primary site of synthesis
Brain — particularly in glial cells, certain [neurons](/entities/neurons), and the cerebral vasculature [@liver2008]

In the brain, BuChE activity is localized to:

[astrocytes](/cell-types/astrocytes) and [microglia](/cell-types/microglia)
Certain cholinergic and non-cholinergic neurons
The cerebral [cortex](/brain-regions/cortex)
The [hippocampus](/brain-regions/hippocampus)
The basal forebrain cholinergic system [@role2005]

Role in Cholinergic Transmission

BuChE contributes to cholinergic signaling by hydrolyzing acetylcholine, thereby terminating synaptic transmission and regulating cholinergic tone [@cholinergic2015]. Under normal conditions, AChE is the primary acetylcholine-terminating enzyme. However, in aging and AD, BuChE activity increases while AChE activity decreases, suggesting that BuChE may partially compensate for lost AChE function [@butyrylcholinesterase2020].

Interaction with Amyloid Processing

Emerging evidence suggests BCHE may interact with [amyloid precursor protein](/entities/app-protein) (APP) processing and [amyloid-beta](/proteins/amyloid-beta) (Aβ) metabolism [@vascular2010]. The enzyme has been shown to:

Influence amyloid-beta aggregation kinetics
Modulate Aβ-induced neurotoxicity
Participate in the inflammatory response to amyloid deposition

Disease Associations

Alzheimer's Disease

BCHE is most strongly associated with Alzheimer's Disease through multiple mechanisms [@role2005][@butyrylcholinesterase2020]:

Genetic Association

The BCHE-K variant (Atypical butyrylcholinesterase, codon 70 mutation) has been linked to:

Altered risk for sporadic AD
Earlier age of onset in some populations
Faster disease progression
Poorer response to [cholinesterase inhibitors](/entities/cholinesterase-inhibitors) [@bchek2009]

Cholinergic Hypothesis Link

AD is characterized by profound loss of basal forebrain cholinergic neurons and decreased acetylcholine levels in the hippocampus and cortex [@role2005]. BCHE activity increases in AD brain tissue and cerebrospinal fluid, potentially reflecting:

Reactive gliosis
In- Compensation for lost AChE activity

Amyloid-Vascularflammatory responses

Interaction
BCHE colocalizes with amyloid deposits in AD brain and cerebral amyloid angiopathy (CAA), suggesting a role in vascular amyloid clearance and Aβ metabolism [@vascular2010].

Mild Cognitive Impairment

Elevated BCHE activity has been detected in individuals with Mild Cognitive Impairment (MCI), particularly those who progress to AD [@plasma2013]. BCHE is being investigated as a:

Diagnostic biomarker — CSF and plasma BCHE levels
Progression marker — higher activity predicts faster decline
Therapeutic target — BCHE inhibitors may benefit cholinergic function

Other Associations

[Parkinson's Disease](/diseases/parkinsons-disease) — Some studies show altered BCHE activity in PD [@butyrylcholinesterase2012]
Schizophrenia — BCHE variants associated with antipsychotic response
Drug Metabolism — Reduced BCHE activity affects suxamethonium sensitivity

Key Variants

| Variant | Effect | Clinical Relevance |
|---------|--------|-------------------|
| BCHE-K (Atypical) | Asp70Ala (D70A) | Altered drug sensitivity, potential AD modifier |
| BCHE-A | Various | Butyrylcholinesterase deficiency |
| -116A>G | Promoter variant | Altered expression levels |

Therapeutic Implications

BCHE Inhibitors

Like acetylcholinesterase inhibitors ([donepezil](/entities/donepezil), rivastigmine, galantamine), BCHE inhibitors are being explored as AD therapeutics [@dual2016]:

[Rivastigmine](/entities/rivastigmine) — a dual AChE/BuChE inhibitor used clinically
Iso-OMPA — selective BCHE inhibitor (research use)
Cymserine analogs — potent BCHE inhibitors in development

Future Directions

Biomarker development using BCHE activity measurements
Gene therapy approaches to modulate BCHE expression
Small molecule inhibitors targeting BCHE in combination therapy

Brain Expression

BCHE expression in the brain is primarily in non-neuronal cells:

[Astrocytes](/entities/astrocytes) — the primary source of brain BuChE
[Microglia](/entities/microglia) — especially in regions of neuroinflammation
Endothelial cells — of the [blood-brain barrier](/entities/blood-brain-barrier)

Expression data is available from the [Allen Human Brain Atlas](https://human.brain-map.org/microarray/search/show?search_term=BCHE).

Key Publications

Darreh-Shori T, et al. (2022). Butyrylcholinesterase: a key modulator of brain cholinergic signaling in health and disease. Journal of Alzheimer's Disease.

Greig NH, et al. (2015). Butyrylcholinesterase: an important new target in Alzheimer's disease therapy. Expert Opinion on Therapeutic Targets.

Lane R, et al. (2013). Butyrylcholinesterase: a biomarker of cholinergic dysfunction in neurodegenerative diseases. Biomarkers.

External Links

NCBI Gene: [https://www.ncbi.nlm.nih.gov/gene/163](https://www.ncbi.nlm.nih.gov/gene/163)
Ensembl: [https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000114200](https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000114200)
OMIM: [https://omim.org/entry/177400](https://omim.org/entry/177400)
UniProt: [https://www.uniprot.org/uniprot/P06276](https://www.uniprot.org/uniprot/P06276)
Allen Human Brain Atlas: [BCHE expression](https://human.brain-map.org/microarray/search/show?search_term=BCHE)

Background

The study of Bche Gene Butyrylcholinesterase has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

References

[Unknown, Butyrylcholinesterase, a multifunctional therapeutic target. Biochimica et Biophysica Acta, 2013 (2013)](https://doi.org/10.1016/j.bbadis.2013.04.016)

[Unknown, Liver and plasma cholinesterase. Journal of Hepatology, 2008 (2008)](https://doi.org/10.1016/j.jhep.2008.02.015)

[Unknown, Role of butyrylcholinesterase in Alzheimer's disease. Neurobiology of Aging, 2005 (2005)](https://doi.org/10.1016/j.neurobiolaging.2004.06.009)

[Unknown, Cholinergic dysfunction in Alzheimer's disease. Current Alzheimer Research, 2015 (2015)](https://doi.org/10.2174/1567205012666150702170907)

[Unknown, Butyrylcholinesterase activity and Alzheimer's disease. Journal of Alzheimer's Disease, 2020 (2020)](https://doi.org/10.3233/JAD-190335)

[Unknown, Vascular amyloid deposition and cholinergic enzymes. Acta Neuropathologica, 2010 (2010)](https://doi.org/10.1007/s00401-010-0683-0)

[Unknown, BCHE-K variant and cholinesterase inhibitor response. Pharmacogenomics, 2009 (2009)](https://doi.org/10.2217/14622416.10.3.341)

[Unknown, Plasma butyrylcholinesterase predicts progression to dementia. Neurology, 2013 (2013)](https://doi.org/10.1212/WNL.0b013e3182825219)

[Unknown, Butyrylcholinesterase in Parkinson's disease. Movement Disorders, 2012 (2012)](https://doi.org/10.1002/mds.24867)

[Unknown, Dual cholinesterase inhibitors for Alzheimer's disease. Expert Opinion on Pharmacotherapy, 2016 (2016)](https://doi.org/10.1517/14656566.2016.1127358)

Pathway Diagram

The following diagram shows the key molecular relationships involving BCHE Gene - Butyrylcholinesterase discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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BCHE Gene - Butyrylcholinesterase

BCHE Gene - Butyrylcholinesterase

BCHE Gene - Butyrylcholinesterase

BCHE — Butyrylcholinesterase

Introduction

Overview

Function

Normal Cholinergic Function

Role in Cholinergic Transmission

Interaction with Amyloid Processing

Disease Associations

Alzheimer's Disease

Genetic Association

Cholinergic Hypothesis Link

Amyloid-Vascularflammatory responses

Mild Cognitive Impairment

Other Associations

Key Variants

Therapeutic Implications

BCHE Inhibitors

Future Directions

Brain Expression

Key Publications

See Also

External Links

Background

References

Pathway Diagram