https://scholars.lib.ntu.edu.tw/handle/123456789/586117
Title: | Interactions of comt and aldh2 genetic polymorphisms on symptoms of parkinson’s disease | Authors: | Yu R.-L. Tu S.-C. RUEY-MEEI WU Lu P.-A. Tan C.-H. |
Keywords: | ALDH2; Bradykinesia; COMT; Parkinson’s disease | Issue Date: | 2021 | Journal Volume: | 11 | Journal Issue: | 3 | Source: | Brain Sciences | Abstract: | (1) Background: Monoamine neurotransmitters play essential roles in the normal functioning of our nervous system. However, the metabolism of monoamine neurotransmitters is accompanied by the production of neurotoxic metabolites, and inefficient removal of the metabolites has been suggested to cause neurodegeneration. (2) Methods: To examine the effect of reduced activity of catechol-O-methyltransferase (COMT) and aldehyde dehydrogenase 2 (ALDH2) conferred by single nucleotide polymorphisms COMT rs4680(A) and ALDH2 rs671(A) on the symptoms of patients with Parkinson’s disease (PD), a total of 114 PD patients were recruited cross-sectionally and received genotyping for rs4680 and rs671 along with MDS-UPDRS evaluation. (3) Results: We found that patients carrying rs4680(A) had more severe bradykinesia in the upper extremity and rest tremor. Besides, patients carrying rs671(A) had more difficulty maintaining personal hygiene, while patients with genotype rs671(GG) had higher scores in the item “depressed mood.” More importantly, we found the effect of rs4680 to be moderated by rs671 SNP for the symptom of “hand movements.” The detrimental impact of rs4680(A) is more pronounced in the presence of genotype rs671(GG). (4) Conclusions: This study facilitates a deeper understanding of the detrimental effect of reduced activity of COMT and ALDH2 conferred by genetic variation and provides novel insight into the interactions between enzymes metabolizing monoamine neurotransmitters in the pathogenesis of PD. ? 2021 by the authors. Licensee MDPI, Basel, Switzerland. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85103096458&doi=10.3390%2fbrainsci11030361&partnerID=40&md5=234082f987640fa5b06f8bfdb5ab9d0a https://scholars.lib.ntu.edu.tw/handle/123456789/586117 |
ISSN: | 20763425 | DOI: | 10.3390/brainsci11030361 | SDG/Keyword: | aldehyde dehydrogenase isoenzyme 2; catechol methyltransferase; dopamine; entacapone; genomic DNA; levodopa; monoamine; neurotransmitter; abnormal posture; adult; aged; anxiety; apathy; Article; bradykinesia; cognitive defect; constipation; controlled study; cross-sectional study; daytime somnolence; depression; disease severity; dizziness; DNA extraction; DNA polymorphism; female; gait disorder; genetic analysis; genotype; hallucination; hand movement; human; leukocyte; major clinical study; male; MDS-Unified Parkinson Disease Rating Scale; Mini Mental State Examination; Montreal cognitive assessment; nerve degeneration; pain; Parkinson disease; personal hygiene; psychosis; single nucleotide polymorphism; sleep disorder; tremor; Unified Parkinson Disease Rating Scale; urinary tract disease |
Appears in Collections: | 醫學院附設醫院 (臺大醫院) |
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