Advances in PCOS Pathogenesis and Progression-Mitochondrial Mutations and Dysfunction

Advances in Clinical Chemistry
Ioana R Ilie

Abstract

Polycystic ovary syndrome (PCOS) is a common female endocrine disorder, which still remains largely unsolved in terms of etiology and pathogenesis despite important advances in our understanding of its genetic, epigenetic, or environmental factor implications. It is a heterogeneous disease, frequently associated with insulin resistance, chronic inflammation, and oxidative stress and probably accompanied with subclinical cardiovascular disease (CVD) and some malignant lesions as well, such as endometrial cancer. Discrepancies in the clinical phenotype and progression of PCOS exist between different population groups, which nuclear genetic studies have so far failed to explain. Over the last years, mitochondrial dysfunction has been increasingly recognized as an important contributor to an array of diseases. Because mitochondria are under the dual genetic control of both the mitochondrial and nuclear genomes, mutations within either DNA molecule may result in deficiency in respiratory chain function that leads to a reduced ability to produce cellular adenosine-5'-triphosphate and to an excessive production of reactive oxygen species. However, the association between variants in mitochondrial genome, mitochondrial dysfunction, and...Continue Reading

Citations

Aug 20, 2019·Reproductive Biology and Endocrinology : RB&E·Jingshun ZhangLianwen Zheng
Sep 2, 2021·Revista da Associação Médica Brasileira·Ali Cenk Özay, Özlen Emekçi Özay

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