ArticlePloS one2012
Mitochondrial genome variations in advanced stage endometriosis: a study in South Indian population.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 37 citations in OpenAlex.
- Aberrant mitochondria in endometriosis: From pathogenic mechanisms to therapeutic opportunities.iScience · 2026Review
- The mitochondrial DNA copy number and ovary-related reproductive disorders: A bidirectional two-sample Mendelian randomization study.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2025Article
- New insights on mitochondrial heteroplasmy observed in ovarian diseases.Journal of advanced research · 2024Review
- Research highlights on contributions of mitochondrial DNA microsatellite instability in solid cancers - an overview.Contemporary oncology (Poznan, Poland) · 2022Review
- Association between mitochondrial DNA D-loop region polymorphisms and endometriosis in a Chinese population.Journal of assisted reproduction and genetics · 2020Article
- Polycystic ovary syndrome and mitochondrial dysfunction.Reproductive biology and endocrinology : RB&E · 2019Review
- Polymorphisms of mitochondrial DNA control region are associated to endometriosis.Journal of assisted reproduction and genetics · 2018Article
- [Research progress on oxidative stress in pathogenesis of endometriosis].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2018Review
- Therapeutic effect of green tea extract on alcohol induced hepatic mitochondrial DNA damage in albino wistar rats.Journal of advanced research · 2017Article
- Manganese-superoxide dismutase (Mn-SOD) overexpression is a common event in colorectal cancers with mitochondrial microsatellite instability.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- BRCA1 alterations are associated with endometriosis, but BRCA2 alterations show no detectable endometriosis risk: a study in Indian population.Journal of assisted reproduction and genetics · 2015Article
- Contribution of cyclin D1 (CCND1) and E-cadherin (CDH1) alterations to colorectal cancer susceptibility: a case-control study.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Article
- TP53 alterations and colorectal cancer predisposition in south Indian population: a case-control study.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Article
- Article
- Mitochondrial control region alterations and breast cancer risk: a study in South Indian population.PloS one · 2014Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEndometriosis 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
findingsWe 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.
conclusionsOur findings substantiate the rationale for exploring the mitochondrial genome as a biomarker for the diagnosis of endometriosis.
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