Analysis of mitochondrial DNA sequence variants in patients with polycystic ovary syndrome

Zhuo, Guangchao; Ding, Yu; Feng, Guanying; Lin, Yongcheng; Jiang, Yan

doi:10.1007/s00404-012-2358-7

Cited by 36 publications

(42 citation statements)

References 28 publications

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“…The mt-tRNA genes are highly susceptible to point mutations, which is a primary cause of mitochondrial dysfunction and thus leads to a few of human pathologies [ 4 ]. Numbers of researches revealed that the mutations in mt-tRNA coding genes could result in the failure of metabolism [ 9 – 12 ], such as T4395C in tRNA-Gln, G5821A in tRNA-Cys, A7543G in tRNA-Asp, T10454C in tRNA-Arg, A14693G in tRNA-Glu, C7492T in tRNA-Ser and A3302G in tRNA-Leu. The mutation, A3302G located at the acceptor arm of tRNA-Leu, caused the dysfunction via reducing the mitochondrial copy number [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Polymorphism of mitochondrial tRNA genes associated with the number of pigs born alive

Wang

Ning

Xiang

et al. 2018

J Animal Sci Biotechnol

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BackgroundMutations in mitochondrial tRNA genes have been widely reported association with human reproductions. It is also important to explore the effect on the number of piglets born alive (NBA). Here, 1017 sows were used to investigate the association between polymorphisms in mitochondrial tRNA genes and NBA.ResultsIn total, 16 mutations were found in mitochondrial tRNA genes, of which 13 mutations were significantly associated with NBA (P < 0.05). The reproductions of mutant carriers were significantly greater than that of wild carriers by 0.989 piglets born alive/sow farrowing. To test whether the mutations altered the structure of mitochondrial tRNAs, the secondary and tertiary structures were predicted. In result, C2255T changed the secondary structure of tRNA-Val by elongating the T stem and shrinking the T loop, and C2255T and G2259A in the tRNA-Val gene, C6217T and T6219C in the tRNA-Ala gene, and T15283C in the tRNA-Glu gene altered the tertiary structure of their tRNAs, respectively by changing the folding form of the T arm, and C16487T in the tRNA-Thr gene changed the tertiary structure of mitochondrial tRNA-Thr by influencing the folding form of the acceptor arm.ConclusionsResults highlight the effect of mitochondrial tRNA genes on the number of piglets born alive, and suggest that polymorphic sites of the tRNA genes be genetic markers for selection of pig reproduction.Electronic supplementary materialThe online version of this article (10.1186/s40104-018-0299-0) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

Polymorphism of mitochondrial tRNA genes associated with the number of pigs born alive

Wang

Ning

Xiang

et al. 2018

J Animal Sci Biotechnol

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“…Alterations in the mtDNA, which are reflected by the change of its copy number and its mutation, have been reported to be involved in a series of diseases and in organ dysfunction (4). Several studies have reported that the alterations of mtDNA are involved in the maturity, aging and lesion formation in the ovary (12,13). Mutations in mtDNA can cause the abnormally expression of oxidative phosphorylation complex and abnormal transfer RNAs, which may be associated with polycystic ovarian syndrome patients (12).…”

Section: Discussionmentioning

confidence: 99%

“…Several studies have reported that the alterations of mtDNA are involved in the maturity, aging and lesion formation in the ovary (12,13). Mutations in mtDNA can cause the abnormally expression of oxidative phosphorylation complex and abnormal transfer RNAs, which may be associated with polycystic ovarian syndrome patients (12). A previous study in pigs revealed that the copy number of mtDNA in the ovaries increased gradually along with sexual maturity (5).…”

Section: Discussionmentioning

confidence: 99%

Morphological and molecular variations induce mitochondrial dysfunction as a possible underlying mechanism of athletic amenorrhea

et al. 2017

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Abstract. Female athletes may experience difficulties in achieving pregnancy due to athletic amenorrhea (AA); however, the underlying mechanisms of AA remain unknown. The present study focuses on the mitochondrial alteration and its function in detecting the possible mechanism of AA. An AA rat model was established by excessive swimming. Hematoxylin and eosin staining, and transmission electron microscopic methods were performed to evaluate the morphological changes of the ovary, immunohistochemical examinations and radioimmunoassays were used to detect the reproductive hormones and corresponding receptors. Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) was used to test the mtDNA copy number. PCR and western blot analysis were used to test the expression of ND2. The change of morphological features of the rat ovaries revealed evident abnormalities. Particularly, the features of the mitochondria were markedly altered. In addition, reproductive hormones in the serum and tissues of AA rats were also detected to evaluate the function of the ovaries, and the levels of these hormones were significantly decreased. Furthermore, the mitochondrial DNA copy number (mtDNA) and expression of NADH dehydrogenase subunit 2 (ND2) were quantitated by qPCR or western blot analysis. Accordingly, the mtDNA copy number and expression of ND2 expression were markedly reduced in the AA rats. In conclusion, mitochondrial dysfunction in AA may affect the cellular energy supply and, therefore, result in dysfunction of the ovary. Thus, mitochondrial dysfunction may be considered as a possible underlying mechanism for the occurrence of AA. IntroductionAn increasing number of athletes are suffering from sports-associated diseases in the competitive sports. For professional female athletes, the incidence of athletic amenorrhea (AA) is particularly high, at a rate of 65-69% in athletes such as dancers and distance runners compared with 2-5% in normal women (1). The high AA in female athletes suggests that achieving pregnancy may be challenging. The current treatment methods primarily including increasing weight and decreasing exercise, replenishing vitamins and minerals, and reinforcing strength training (2). The normal menstrual cycle is regulated by the hypothalamic-pituitary-ovarian axis, and the ovary is one of the most important organs in this axis (3). Thus, it is important to investigate the underlying mechanism of ovary dysfunction in AA.The mitochondrion is the organelle of energy supply in eukaryotic organisms. Mitochondrial abnormity or dysfunction has been reported to be involved in various diseases (4). To some of these diseases, the dysfunction of mitochondrion is considered as a key mechanism to cause the dysfunction of the organ, thus it was conjectured that the dysfunction of mitochondrion may cause the dysfunction of ovary, which may result in AA. The number of mitochondria and the mitochondrial DNA (mtDNA) copy number may vary among different types of cells and tissues. Furthermore, the mitochondria an...

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“…A further in-depth probe into the same samples found that a distinct set of polymorphisms mainly focused on oxidative phosphorylation (OXPHOS) complex, as well as six variants in the mitochondrial tRNA genes tRNA(Gln), tRNA(Cys), tRNA(Asp), tRNA(Lys), tRNA(Arg) and tRNA(Glu) were identified in PCOS patients. These variants occurred at highly conserved nucleotides of corresponding tRNA, which are important for tRNA stability level and biochemical function (Zhuo et al, 2012).…”

Section: Other Genesmentioning

confidence: 99%

Basic research in PCOS: are we reaching new frontiers?

Ben‐Shlomo

Younis

2014

Reproductive BioMedicine Online

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Analysis of mitochondrial DNA sequence variants in patients with polycystic ovary syndrome

Abstract: Mutations in mtDNA, especially the OXPHOS complex and tRNAs, may be associated with PCOS patients, thus, our results shed new insight into the pathogenesis of PCOS.

Cited by 36 publications

References 28 publications

Polymorphism of mitochondrial tRNA genes associated with the number of pigs born alive

Polymorphism of mitochondrial tRNA genes associated with the number of pigs born alive

Morphological and molecular variations induce mitochondrial dysfunction as a possible underlying mechanism of athletic amenorrhea

Basic research in PCOS: are we reaching new frontiers?

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