Fig. 1 Mutations found in the serum cholinesterase gene. (Mutations F28I, N96Y, 317-318insA, R386C, R424X, and E460K come from Ref. . All of the others come from Ref. .)
serum cholinesterase is 2.2% and low FN or DN/FN is 1.1% in these peoples. These values show that polymorphism is very common in normal populations.
Distinct ethnic differences in genetic mutations of the human BChE gene have been reported. The P100S, L330I, G365R, and R515C were only found in Japanese, whereas A (G70D), F-1 (T243M), F-2 (G390V), J (E490V), and H (V142M) variants existed mostly in European, American, and Australian populations.[1,2,7-13]
K-variant polymorphism has a similar high frequency (>0.1) in Americans, Chinese, Italian, Australian, and Japanese.[1,2,8] However, the K-variant was not found in Georgian and Ashkenazi Jews. The K-variant is associated with Alzheimer's disease in Europeans, but not in Asians such as Chinese and Japanese.[13,15] The K-variant might be a protective factor, presumably because of its reduced enzymatic activity, and the wild-type allele of BChE could be a risk factor for Alzheimer's disease. Indeed, some effective therapeutic agents such as donepezil and tacrine currently used to treat Alzheimer's disease are cholinesterase inhibitors.
No mutation has been found in the BChE gene in patients with hypercholinesterasemia. Some patients with hypocholinesterasemia have had no mutations found in the BChE gene. It is suggested that some other protein has affected BChE activity in the serum.
Patients with inherited a-, hypo-, or hypercholinester-asemia generally have no signs or symptoms and can lead a healthy life. Gene diagnosis is used to distinguish between hypocholinesterasemia caused by the genetic factor or liver disease. If a muscle relaxant such as succinylcholine or mivacurium is injected in patients with low serum cholinesterase, BChE activity greater than 30% of normal is necessary to metabolize the drug safely. If prolonged apnea has been caused by administration of succinylcholine or mivacurium, an injection of fresh plasma or refined BChE should be used immediately. Butyrylcholinesterase may also be used as a medicine to treat poisoning caused by cocaine or organophosphorus pesticides.[16,17]
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