Concurrent detection of the mitochondrial DNA copy number and the +35G/C polymorphism in the mitochondrial transcription factor A gene in endometriosis

IF 3.8 3区生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY

Archives of biochemistry and biophysics Pub Date : 2024-09-10 DOI:10.1016/j.abb.2024.110152

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Abstract

Background and aim

Endometriosis is a chronic gynecological inflammatory disease. The mitochondrial DNA copy number (mtDNA CN) and mitochondrial transcription factor A (TFAM) are known to contribute to human pathologies and cancer. Therefore, this study aims to reveal the association of mtDNA CN and TFAM+35G/C (rs1937) polymorphism with the risk of endometriosis in Egyptian females.

Materials and methods

This case-control study involved 160 Egyptian females divided into two groups: 80 endometriosis cases and 80 controls. The mtDNA CN was quantified using a real-time quantitative PCR (qPCR), and the TFAM +35G/C SNP (rs1937) was genotyped using the TaqMan allelic discrimination assay technique.

Results

The mtDNA CN was markedly decreased in endometriosis cases compared to controls (P < 0. 001). TFAM rs1937 genotypes and allele distributions were all in Hardy-Weinberg equilibrium. The GC genotype and the ‘C’ allele frequency (P = 0.015 and P = 0.017, respectively) were substantially greater in endometriosis cases.

Conclusion

Decreased mtDNA CN and the GC genotype of TFAM +35G/C polymorphism were significantly associated with the risk of endometriosis in Egyptian females.

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背景和目的子宫内膜异位症是一种慢性妇科炎症。众所周知，线粒体 DNA 拷贝数（mtDNA CN）和线粒体转录因子 A（TFAM）与人类病症和癌症有关。因此，本研究旨在揭示 mtDNA CN 和 TFAM+35G/C (rs1937) 多态性与埃及女性子宫内膜异位症风险的关联。结果与对照组相比，子宫内膜异位症病例的 mtDNA CN 明显降低（P < 0.TFAM rs1937的基因型和等位基因分布均处于Hardy-Weinberg平衡状态。结论 mtDNA CN 的降低和 TFAM +35G/C 多态性的 GC 基因型与埃及女性患子宫内膜异位症的风险显著相关。

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来源期刊

Archives of biochemistry and biophysics 生物-生化与分子生物学

CiteScore

7.40

自引率

0.00%

发文量

245

审稿时长

26 days

期刊介绍： Archives of Biochemistry and Biophysics publishes quality original articles and reviews in the developing areas of biochemistry and biophysics. Research Areas Include: • Enzyme and protein structure, function, regulation. Folding, turnover, and post-translational processing • Biological oxidations, free radical reactions, redox signaling, oxygenases, P450 reactions • Signal transduction, receptors, membrane transport, intracellular signals. Cellular and integrated metabolism.

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