A pilot study on the relationship between a variable number tandem repeat polymorphism and monoamine oxidase A protein expression in the human brain

IF 1.4 4区医学 Q3 MEDICINE, LEGAL

Legal Medicine Pub Date : 2025-09-12 DOI:10.1016/j.legalmed.2025.102707

Aya Matsusue , Mio Takayama , Naoto Tani , Brian Waters , Masayuki Kashiwagi , Takaki Ishikawa

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引用次数: 0

Abstract

Monoamine oxidase A (MAOA) catalyzes the oxidative deamination of amine neurotransmitters and xenobiotics. The MAOA gene is located on the X chromosome and has a functional variable number tandem repeat (VNTR) polymorphism of 30 bp repeats in the promoter region (MAOA-uVNTR). The MAOA-uVNTR polymorphism has been associated with transcriptional activity. We herein examined the frequencies of MAOA-uVNTR alleles in 21 cases in which amphetamines or psychotropic drugs were not detected in blood or urine samples (ND cases). We also investigated MAOA protein expression levels in the brains of these cases. In ND cases, brain MAOA expression levels were significantly higher in males with 4-repeat alleles and females who were homozygous for 4-repeat alleles (4 + 4/4 genotype group) than in males with 3-repeat alleles and females who were homozygous for 3-repeat alleles (3 + 3/3 genotype group) (p = 0.0395). Collectively, these results indicate that the MAOA-uVNTR polymorphism affects the brain expression level of MAOA in ND cases.

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可变数串联重复序列多态性与人脑单胺氧化酶A蛋白表达关系的初步研究。

单胺氧化酶A （MAOA）催化胺类神经递质和异种生物的氧化脱胺作用。MAOA基因位于X染色体上，在启动子区域具有30 bp重复序列的功能性可变数串列重复（VNTR）多态性（MAOA- uvntr）。MAOA-uVNTR多态性与转录活性有关。在此，我们检测了21例血液或尿液样本中未检测到安非他明或精神药物（ND病例）的MAOA-uVNTR等位基因的频率。我们还研究了这些病例大脑中MAOA蛋白的表达水平。在ND病例中，4-repeat等位基因男性和4-repeat等位基因纯合子女性（4 + 4/4基因型组）的脑MAOA表达水平显著高于3-repeat等位基因男性和3-repeat等位基因纯合子女性（3 + 3/3基因型组）（p = 0.0395）。综上所述，这些结果表明MAOA- uvntr多态性影响ND病例中MAOA的脑表达水平。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Legal Medicine Nursing-Issues, Ethics and Legal Aspects

CiteScore

2.80

自引率

6.70%

发文量

119

审稿时长

7.9 weeks

期刊介绍： Legal Medicine provides an international forum for the publication of original articles, reviews and correspondence on subjects that cover practical and theoretical areas of interest relating to the wide range of legal medicine. Subjects covered include forensic pathology, toxicology, odontology, anthropology, criminalistics, immunochemistry, hemogenetics and forensic aspects of biological science with emphasis on DNA analysis and molecular biology. Submissions dealing with medicolegal problems such as malpractice, insurance, child abuse or ethics in medical practice are also acceptable.