TLDR Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
The research investigated the role of mitochondrial DNA (mtDNA) mutations in the development of Polycystic Ovarian Syndrome (PCOS) in three patients with a history of maternally inherited PCOS. The study identified eight mutations in six genes common among the patients, some of which resulted in translation defects that were pathogenic. Additionally, several variations in mtDNA were found, some previously associated with various types of cancer and other diseases. Two mitochondrial variants in the ATP6 gene, previously linked with hypertrophic cardiomyopathy and nonsyndromic hearing loss, were also identified. The study concluded that these mutations could play a significant role in the development of PCOS and suggested that genetic testing for these mutations could aid in diagnosis and management. However, further research is needed to establish a causal relationship, and the study recommends replicating the sequence analysis with a larger sample size in other parts of the world.
195 citations,
November 2019 in “Clinica Chimica Acta” High levels of male hormones, insulin resistance, and obesity are closely linked and worsen polycystic ovary syndrome, but more research is needed to improve treatments.
20 citations,
January 2016 in “Open Journal of Endocrine and Metabolic Diseases” PCOS affects fertility and is linked to obesity and menstrual irregularities; lifestyle changes are recommended for treatment.
222 citations,
January 2014 in “International journal of reproductive medicine” Insulin resistance and obesity are key factors in the development and worsening of polycystic ovary syndrome, and lifestyle changes are important for managing it.
73 citations,
February 2007 in “The American Journal of Medicine” PCOS is a common hormonal disorder in women, treated with lifestyle changes and medications like hormonal contraceptives and metformin.
October 2023 in “Frontiers in endocrinology” Androgens and androgen receptors are important for metabolic health, affecting how the body uses glucose and fats through mitochondrial function.
6 citations,
September 2023 in “International journal of molecular sciences” Oxidative stress worsens PCOS by damaging cells and disrupting metabolism, suggesting antioxidant treatments might help.
January 2022 in “IntechOpen eBooks” Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.
1 citations,
July 2023 in “Frontiers in Immunology” Oxidative stress and immune dysfunction are linked to both Hashimoto's thyroiditis and polycystic ovary syndrome, with diet and specific treatments important for managing these conditions.
1 citations,
May 2023 in “Cell reports medicine” Sons of mothers with polycystic ovary syndrome (PCOS) have a higher risk of obesity and insulin resistance, possibly due to certain genes and factors passed down from their mothers.
