ArticleBMC endocrine disorders2007
Mitochondrial DNA mutations in oxyphilic and chief cell parathyroid adenomas.
Article in BMC endocrine disorders, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 53 citations in OpenAlex.
- Immunohistochemical Expression of CaSR, VDR, and AMA in Parathyroid Tumors in Relation to Hypercalcemia Severity in Primary Hyperparathyroidism.Current issues in molecular biology · 2026Article
- Expansion of Germline Variants in Primary Hyperparathyroidism: Fumarate Hydratase Deficiency as a Cause of Parathyroid Adenomas.Endocrine pathology · 2026Observational
- Unraveling the mystery of parathyroid oxyphil cells in uremic SHPT: ongoing challenges and multi-omics advances.Journal of molecular cell biology · 2026Review
- The role of ESRRA and JUNB in oxyphil cells: insights from spatial transcriptomics and single-cell transcriptomics in uremic secondary hyperparathyroidism.Biology direct · 2026Article
- Primary hyperparathyroidism: targeted, focused exploration with "selective" parathyroidectomy : Minimally invasive open vs. minimally invasive video-assisted vs. endoscopic approach.Wiener klinische Wochenschrift · 2026Review
- Digital spatial profiling of human parathyroid tumors reveals cellular and molecular alterations linked to vitamin D deficiency.PNAS nexus · 2023Article
- Article
- Diagnostic Value of Choline PET in the Preoperative Localization of Hyperfunctioning Parathyroid Gland(s): A Comprehensive Overview.Biomedicines · 2021Review
- Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.Frontiers in endocrinology · 2021Article
- Article
- Mitochondrial DNA somatic mutation in cancer.Toxicological research · 2014Article
- Somatic alterations in mitochondrial DNA and mitochondrial dysfunction in gastric cancer progression.World journal of gastroenterology · 2014Review
- Genetic and epigenetic changes in sporadic endocrine tumors: parathyroid tumors.Molecular and cellular endocrinology · 2014Review
- Relevance of mitochondrial genetics and metabolism in cancer development.Cold Spring Harbor perspectives in biology · 2013Review
- Review
- Identification of an mtDNA mutation hot spot in UV-induced mouse skin tumors producing altered cellular biochemistry.The Journal of investigative dermatology · 2012Article
- Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny.European journal of human genetics : EJHG · 2011Article
- Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism.Endocrine · 2010Article
- Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies.Journal of oncology · 2010Article
- Implications of mitochondrial DNA mutations and mitochondrial dysfunction in tumorigenesis.Cell research · 2009Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundThe potential pathogenetic significance of mitochondrial DNA (mtDNA) mutations in tumorigenesis is controversial. We hypothesized that benign tumorigenesis of a slowly replicating tissue like the human parathyroid might constitute an especially fertile ground on which a selective advantage conferred by mtDNA mutation could be manifested and might contribute to the oxyphilic phenotype observed in a subset of parathyroid tumors.
methodsWe sought acquired mitochondrial DNA mutations by sequencing the entire 16.6 kb mitochondrial genome of each of thirty sporadic parathyroid adenomas (18 chief cell and 12 oxyphil cell), eight independent, polyclonal, parathyroid primary chief cell hyperplasias plus corresponding normal control samples, five normal parathyroid glands, and one normal thyroid gland.
resultsTwenty-seven somatic mutations were identified in 15 of 30 (9 of 12 oxyphil adenomas, 6 of 18 chief cell) parathyroid adenomas studied. No somatic mutations were observed in the hyperplastic parathyroid glands.
conclusionFeatures of the somatic mutations suggest that they may confer a selective advantage and contribute to the molecular pathogenesis of parathyroid adenomas. Importantly, the statistically significant differences in mutation prevalence in oxyphil vs. chief cell adenomas also suggest that mtDNA mutations may contribute to the oxyphil phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.