BCHE : butyrylcholinesterase
Description
The BCHE gene provides instructions for making butyrylcholinesterase (BuChE), an enzyme that breaks down the neurotransmitter acetylcholine. BuChE plays a crucial role in the nervous system, particularly in the breakdown of acetylcholine at neuromuscular junctions and in the brain. Its activity is essential for the proper functioning of muscles and cognitive processes. Variations in the BCHE gene can lead to changes in BuChE activity, which may influence susceptibility to certain diseases.
Associated Diseases
- Succinylcholine Apnea: Individuals with low BuChE activity may experience prolonged muscle paralysis after receiving the muscle relaxant succinylcholine.
- Organophosphate Poisoning: Reduced BuChE activity can make individuals more vulnerable to the effects of organophosphate pesticides, which inhibit cholinesterase activity.
- Alzheimer‘s Disease: Some studies suggest a link between BuChE activity and cognitive decline in Alzheimer‘s disease.
- Myasthenia Gravis: BuChE activity may be altered in patients with myasthenia gravis, an autoimmune disorder that affects muscle function.
Did you know?
BuChE is also known as pseudocholinesterase because it can break down acetylcholine, although at a slower rate than acetylcholinesterase (AChE), the primary enzyme responsible for acetylcholine breakdown.
