Male infertility and mitochondrial DNA

Carra, Elena; Sangiorgi, Donatella; Gattuccio, F; Rinaldi, Anna Maria

doi:10.1016/j.bbrc.2004.07.112

Cited by 40 publications

(31 citation statements)

References 32 publications

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“…This methodology have been adopted for studying mitochondrial distribution and activity in sea urchin embryos at later stages of development (Morici et al 2007) and in different systems like human sperms of asthenozoospermic patients (Carra et al 2004) or human tumoral breast cells (Cannino et al 2008), suggesting a wide range of application for studying the variations of membrane potential, localization and activity of the organelles. …”

Section: Resultsmentioning

confidence: 99%

A method for measuring mitochondrial mass and activity

2008

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Mitochondria, responsible for the energygenerating process essential for the cell metabolism, differ for the number, localization and activity in animal cells and tissues in relation to the energetic needs. Using fluorescent probes specific for mitochondria, Mitotracker Green (MTG) and Orange (MTO), and Confocal Laser-Scanning Microscope (CLSM), we elaborated a method to measure in vivo the mitochondrial mass and activity, in sea urchin Paracentrotus lividus eggs and embryos. The analysis of captured images, revealed a variation of mitochondrial distribution and an increase of activity after fertilization.

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Section: Resultsmentioning

confidence: 99%

A method for measuring mitochondrial mass and activity

2008

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“…Other studies have shown a correlation between the quality of the sperm and the functionality of the respiratory chain in sperm mitochondria [125]. A direct and positive correlation between sperm motility and mitochondrial enzymatic activities has been demonstrated suggesting that motility largely depends on energy production by mitochondria [120]. In an interesting study by Carra et al, [120], they investigated sperm mtDNA from idiopathic oligoasthenozoospermic patients, with different sperm motility and sperm concentrations, by testing motile and non-motile sperm of the same individual.…”

Section: The Usp26 Gene Mutationsmentioning

confidence: 95%

“…As the mtDNA genes encode several polypeptides particularly for the OXPHOS, mtDNA damages cause deficiency in ATP production [118,119]. The mitochondrial machinery plays a key role in the energy production and maintenance of spermatozoa motility and is proposed to be one of the major determinants of male fertility [120].…”

Section: The Usp26 Gene Mutationsmentioning

confidence: 99%

“…A direct and positive correlation between sperm motility and mitochondrial enzymatic activities has been demonstrated suggesting that motility largely depends on energy production by mitochondria [120]. In an interesting study by Carra et al, [120], they investigated sperm mtDNA from idiopathic oligoasthenozoospermic patients, with different sperm motility and sperm concentrations, by testing motile and non-motile sperm of the same individual. Their results suggested that only motile sperm have organelles functional in oxygen consumption, unequivocally demonstrating that motility depends on the mitochondrial activity.…”

Section: The Usp26 Gene Mutationsmentioning

confidence: 99%

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A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Tahmasbpour

Balasubramanian

Agarwal

2014

J Assist Reprod Genet

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Background The assisted reproductive techniques aimed to assist infertile couples have their own offspring carry significant risks of passing on molecular defects to next generations. Results Novel breakthroughs in gene and protein interactions have been achieved in the field of male infertility using genome-wide proteomics and transcriptomics technologies. Conclusion Male Infertility is a complex and multifactorial disorder.Significance This review provides a comprehensive, up-todate evaluation of the multifactorial factors involved in male infertility. These factors need to be first assessed and understood before we can successfully treat male infertility.

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“…1 Researchers have proven a genetic contribution to infertility by demonstrating genetic influences on a variety of physiological processes, including hormonal homeostasis, spermatogenesis and sperm quality. 2 Because spermatozoa contain a large number of mitochondria and mitochondria have an important role in the quality and quantity of spermatozoa by providing the energy needed to complete their functions, especially sperm motility, 3 it is generally hypothesized that the accumulation of pathogenic mitochondrial DNA (mtDNA) influences the function of spermatozoa, including sperm motility. 4 A series of studies have noted an association between alterations of mtDNA and sperm dysfunction.…”

Section: Introductionmentioning

confidence: 99%

CAG-repeat variant in the polymerase γ gene and male infertility in the Chinese population: a meta-analysis

Liu¹,

Zhang²,

Haiying³

et al. 2010

Asian J Androl

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Several studies have reported a relationship between the length of the CAG-repeat in the polymerase c (POLG) gene and male infertility. However, other studies have not reproduced this result. In our study, the POLG-CAG-repeat length was analyzed in 535 healthy individuals from six Chinese Han populations living in different provinces. The frequencies of 10-CAG alleles and genotypes were high (97.38 and 94.13%, respectively), with no significant difference among the six Chinese Han populations. Furthermore, we determined the distribution of the POLG-CAG-repeat in 150 infertile men and 126 fertile men. Our study suggested that the distributions of POLG-CAG-repeat alleles and genotypes were not significantly different between infertile (95.67 and 92.67%, respectively) and fertile men (97.22 and 94.44%, respectively). In a subsequent meta-analysis, combining our data with data from previous studies, a comparison of the CAG-repeat alleles in fertile versus infertile men showed no obvious risk for male infertility associated with any particular allele (pooled odds ratio (OR)50.94; 95% confidence interval (CI): 0.60-1.48). The significance level was not attained with any of the following genetic models: homozygote comparison (not 10/not 10 versus 10/10: OR51.34; 95% CI: 0.66-2.72), heterozygote comparison (10/not 10 versus 10/10: OR51.04; 95% CI: 0.78-1.38), dominant model comparison (not 10/not 10110/ not 10 versus 10/10: OR51.08; 95% CI: 0.79-1.47) and recessive genetic comparison (not 10/not 10 versus 10/not 10110/10: OR51.31; 95% CI: 0.68-2.55). In conclusion, there is no significant difference of the frequencies of POLG-CAG-repeat variants among six Chinese Han populations, and this polymorphism may not be associated with Chinese male infertility. On the basis of a meta-analysis, there is no obvious association between CAG-repeat variants of the POLG gene and male infertility.

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Male infertility and mitochondrial DNA

Cited by 40 publications

References 32 publications

A method for measuring mitochondrial mass and activity

A method for measuring mitochondrial mass and activity

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

CAG-repeat variant in the polymerase γ gene and male infertility in the Chinese population: a meta-analysis

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