Butyrylcholinesterase (BChE; EC 3.1.1.8), an enzyme structurally related to acetylcholinesterase, is widely distributed in the human body. It plays a role in the detoxification of chemicals such as succinylcholine, a muscle relaxant used in anesthetic practice. BChE is well-known due to variant forms of the enzyme with little or no hydrolytic activity which exist in some endogamous communities and result in prolonged apnea following the administration of succinylcholine. Its other functions include the ability to hydrolyze acetylcholine, the cholinergic neurotransmitter in the brain, when its primary hydrolytic enzyme, acetylcholinesterase, is absent. To assess its potential roles, BChE was studied in relation to insulin resistance, type 2 diabetes mellitus, cognition, hepatic disorders, cardiovascular and cerebrovascular diseases, and inflammatory conditions. Individuals who lack the enzyme activity of BChE are otherwise healthy, until they are given drugs hydrolyzed by this enzyme. Therefore, BChE is a candidate for the study of loss-of-function mutations in humans. Studying individuals with variant forms of BChE can provide insights into whether they are protected against metabolic diseases. The potential utility of the enzyme as a biomarker for Alzheimer's disease and the response to its drug treatment can also be assessed.
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http://dx.doi.org/10.5493/wjem.v14.i1.87202 | DOI Listing |
Microb Ecol
January 2025
Real Jardín Botánico (RJB-CSIC), C/ Moyano 1, 28014, Madrid, Spain.
Karst caves, formed from the dissolution of soluble rocks, are characterized by the absence of photosynthetic activity and low levels of organic matter. Organisms evolve under these particular conditions, which causes high levels of endemic biodiversity in both macroorganism and microbes. Recent research has highlighted the presence of testate amoebae (Arcellinida) group in cave environments.
View Article and Find Full Text PDFRev Med Chil
May 2024
Departamento de Farmacología, Facultad de Ciencias Biológicas, Universidad de Concepción, Concepción, Chile.
Unlabelled: Serotonin plays a central role in mood regulation and the development of depressive disorders. The serotonin transporter, the primary regulator of serotonin levels, presents genetic variants that affect its functionality.
Aim: To study whether functional bi-allelic 5-HTTLPR or tri-allelic 5-HTTLPR/rs25531 polymorphisms in the serotonin transporter gene are associated with the diagnosis of depression.
iScience
December 2024
Guangzhou Municipal Key Laboratory of Metabolic Diseases and Reproductive Health, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, China.
AT-rich sequence can cause structure variants such as translocations and its instability can be accelerated by replication stresses. When human 16p11.2 or 22q11.
View Article and Find Full Text PDFACS Omega
December 2024
Faculty of Health Science, University of Ss. Cyril and Methodius, 91701 Trnava, Slovakia.
A hybrid B3LYP version of the Density Functional Theory was applied in full geometry optimization followed by vibrational analysis of mustard-type molecules acting as antiblood cancer agents: melphalan and bendamustine. All calculations were performed with water as a solvent. In addition to the ground-state properties (dipole moment, quadrupole moment, dipole polarizability, solvated surface and volume, zero-point vibration energy, total entropic term), properties that characterize adiabatic redox processes (ionization energy, electron affinity, molecular electronegativity, chemical hardness, electrophilicity index) together with the absolute oxidation and reduction potentials were evaluated.
View Article and Find Full Text PDFHum Genet
January 2025
Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan.
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.
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