Mitochondrial Genome Variations in Advanced Stage Endometriosis: A Study in South Indian Population

Suresh Govatati, Nageswara Rao Tipirisetti, Perugu Shyam, Shyam Perugu, Vijaya Lakshmi Kodati, Mamata Deenadayal, Vishnupriya Satti, Manjula Bhanoori, S Shivaji
PloS one · 2012 · vol. 7(7) , pp. e40668 · doi:10.1371/journal.pone.0040668 · PMID:22815783 · PMC3398934 · W2087034825
article OA: gold CC0 ⤵ 17 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This study analyzed mitochondrial genomes from endometriosis patients, identifying numerous somatic and germline variations, with a novel A13603G mutation specifically in ectopic tissues and an association between haplogroup M5 and endometriosis risk.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 ⓘ

This study analyzed whole mitochondrial DNA (mtDNA) sequences in matched ectopic and eutopic endometrial tissues plus blood from 32 pre-menopausal South Indian women with advanced stage (rAFS III–IV) endometriosis, screening ectopic tissue for tumor-specific mtDNA deletions and mitochondrial microsatellite instability. The authors identified 51 somatic mtDNA variations and 583 germ-line variations, including a novel ND5 missense mutation (A13603G) that was homoplasmic in ectopic tissues but heteroplasmic (A/G) in eutopic endometrium and peripheral leukocytes; they reported no structural changes by homology modeling and found no mtDNA deletions or MSI in ectopic tissues. They also performed mtDNA haplogrouping in 128 cases and 90 controls and found a significant association between haplogroup M5 and endometriosis risk after Bonferroni correction, while explicitly noting the focus on stage III–IV patients and excluding adenomyosis and stage I–II disease as part of the study design. This paper is centrally about endometriosis — it performs comprehensive sequencing of mitochondrial genomes to identify somatic, germ-line, and haplogroup associations with advanced-stage endometriosis.

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Abstract

BACKGROUND: Endometriosis is a chronic gynecological benign disease that shares several features similar to malignancy. Mitochondrial DNA (mtDNA) mutations have been reported in all most all types of tumors. However, it is not known as to whether mtDNA mutations are associated with endometriosis. METHODOLOGY: We sequenced the entire mitochondrial genome of analogous ectopic and eutopic endometrial tissues along with blood samples from 32 advanced stage endometriosis patients to analyze the role of somatic and germ-line mtDNA variations in pathogenesis of endometriosis. All ectopic tissues were screened for tumor-specific mtDNA deletions and microsatellite instability (MSI). We also performed mtDNA haplogrouping in 128 patients and 90 controls to identify its possible association with endometriosis risk. PRINCIPAL FINDINGS: We identified 51 somatic (novel: 31; reported: 20) and 583 germ-line mtDNA variations (novel: 53; reported: 530) in endometriosis patients. The A13603G, a novel missense mutation which leads to a substitution from serine to glycine at the codon 423 of ND5 gene showed 100% incidence in ectopic tissues. Interestingly, eutopic endometrium and peripheral leukocytes of all the patients showed heteroplasmy (A/G; 40-80%) at this locus, while their ectopic endometrium showed homoplasmic mutant allele (G/G). Superimposition of native and mutant structures of ND5 generated by homology modeling revealed no structural differences. Tumor-specific deletions and MSI were not observed in any of the ectopic tissues. Haplogrouping analysis showed a significant association between haplogroup M5 and endometriosis risk (P: 0.00069) after bonferroni correction. CONCLUSIONS: Our findings substantiate the rationale for exploring the mitochondrial genome as a biomarker for the diagnosis of endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis Genetic Variation Genome, Mitochondrial Amino Acid Sequence Base Sequence Case-Control Studies Computational Biology DNA, Mitochondrial DNA, Mitochondrial DNA Mutational Analysis Electron Transport Complex I Electron Transport Complex I Electron Transport Complex I Endometriosis Female Gene Deletion Genetic Predisposition to Disease Genome, Mitochondrial Germ-Line Mutation

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