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

El Derbaly SA, Sara A El Derbaly, Mohamed OA, Ola A Mohamed, Naglaa M Ghanaym, Ghanaym NM, Azmy R, Rania Azmy, Abdelgayed AM, Alaa M Abdelgayed, Abbas MA, Mona A. Abbas
Archives of biochemistry and biophysics · 2024 · vol. 761 , pp. 110152 · doi:10.1016/j.abb.2024.110152 · PMID:39265693 · W4402391192
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This study developed a method to simultaneously detect mitochondrial DNA copy number and the +35G/C polymorphism in the *TFAM* gene, finding it applicable to endometriosis research.

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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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Condition tags

endometriosis

MeSH descriptors

DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins

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