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

• Published in: Archives of biochemistry and biophysics 2024-11, Vol.761, p.110152, Article 110152
• Main Authors: El Derbaly, Sara A., Mohamed, Ola A., Ghanaym, Naglaa M., Azmy, Rania, Abdelgayed, Alaa M., Abbas, Mona A.
• Format: Article
• Language: English
• Subjects: Adult; Case-Control Studies; DNA Copy Number Variations; DNA, Mitochondrial - genetics; DNA-Binding Proteins - genetics; Egypt - epidemiology; Endometriosis; Endometriosis - genetics; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Mitochondrial DNA CN; Mitochondrial Proteins - genetics; Polymorphism; Polymorphism, Single Nucleotide; qPCR; TFAM; Transcription Factors - genetics
• ISSN: 0003-9861; 1096-0384; 1096-0384
• DOI: 10.1016/j.abb.2024.110152

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. 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. 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. Decreased mtDNA CN and the GC genotype of TFAM +35G/C polymorphism were significantly associated with the risk of endometriosis in Egyptian females. [Display omitted] •The mtDNA CN was significantly lower in endometriosis cases compared to controls.•The mtDNA CN alteration is an independent risk factor for endometriosis.•Cases had higher TFAM (rs1937) GC genotype and 'C' allele frequency than controls.•TFAM (rs1937) was significantly associated with endometriosis risk.