Mitochondries et reproduction

May‐Panloup, Pascale; Chrétien, Marie-Françoise; Malthièry, Yves; Reynier, Pascal

doi:10.1051/medsci/2004208-9779

Cited by 8 publications

(10 citation statements)

References 35 publications

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“…Recently, it has been hypothesized that mitochondria may be directly involved in human reproduction, this has taken attentions within the scientific and medical community [4]. Human mitochondrial DNA (mtDNA) contains a 16569-base pair double strand circular genome which encodes 13 proteins (from 37 genes) of the respiratory chain, 2 rRNAs and 22 tRNAs needed for mitochondrial protein synthesis [5,6].…”

Section: Introductionmentioning

confidence: 99%

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

Seyedhassani

Houshmand

Kalantar

et al. 2010

J Assist Reprod Genet

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Purpose Repeated pregnancy loss (RPL) occurs in 1 out of 300 couples, and the cause of about 50% of them remains idiopathic. Mitochondria have an important role in human development through ATP production and their involvement in apoptosis. Methods 96 RPL and 96 control females were used to investigate the frequency of deletions and point mutations in the displacement loop (D-loop) on mitochondria. Multiplex PCR and DNA sequencing methods were used to detect possible variations in the mitochondrial DNA (mtDNA).Results No deletions but a high frequency of point mutations were found in RPL females; among 129 variations observed in RPL, 22 mutations were significant (P<0.05) and the insertion of C in nucleotide 114 was novel. Conclusion High rate of mutations in D-loop of mtDNA was observed in maternal blood, a fact that may have a direct or indirect role in inducing RPL. The results can be used in the assessment of RPL and designing possible treatments for improving assisted reproduction.

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Section: Introductionmentioning

confidence: 99%

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

Seyedhassani

Houshmand

Kalantar

et al. 2010

J Assist Reprod Genet

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“…This decrease, considered a factor in sperm maturation, is favored by a reduction in the expression of the main factor regulating the transcription and replication of mtDNA, which is the mitochondrial transcription factor A, at the spermatid stage. However, mtDNA copy numbers are higher in abnormal sperm cells than in normal sperm cells [17] . Other possible reasons for these results include anomalous sperm differentiation and maturation, a feedback process leading to an increase in the mtDNA copy number to compensate for low MRC activity in asthenozoospermia, and the excessive production of reactive oxygen species [18,19] .…”

Section: Discussionmentioning

confidence: 99%

Polymorphism of mitochondrial DNA genes involved in asthenozoospermia in infertile patients of Côte d’Ivoire

Ayekoue

N’zi

Ako

et al. 2023

Reproductive and Developmental Medicine

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Objective: The relationship between mitochondrial DNA (mtDNA) polymorphisms and abnormalities in sperm quality has been the subject of several studies, with the objective of improving the treatment of male infertility. This study, which contributes to the identification of genetic markers of sperm abnormalities, was conducted to study mtDNA mutations in the asthenozoospermia profile. Methods: This case-control study included 30 patients with asthenozoospermia and 28 with normospermia after spermogram and spermocytogram analyses. After the extraction of total DNA from the spermatozoa of 58 ejaculates from these individuals using the phenol-chloroform method, the amplification of genes of interest in mtDNA using specific primers was performed by conventional polymerase chain reaction, and sequencing was used to detect mutations. Results: Male patients with asthenozoospermia in the tertiary sector had significantly more mutant- than wild-type (P = 0.0005) MT-CO II genes. Similarly, for the same gene, males with asthenozoospermia and primary infertility had significantly more mutants than the wild-type (P = 0.001). Sequencing revealed 29 mutations that were observed only with asthenozoospermia, which could be the basis for low sperm mobility. Conclusion: This study identified several mutations in mtDNA genes that could be considered genetic markers of asthenozoospermia if confirmed in a deeper study.

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“…The number of mitochondria within spermatozoa differs according to the species, and for H. ovina, it was assumed to be five (Singhakaew et al 2003). However, the number of mitochondrial DNA copies was not known; it was considered to be around 10-100 in humans (May-Panloup et al 2006) per spermatozoon, whereas in a human oocyte, this number (May-Panloup et al 2004) is estimated at between 10,000 and 100,000.…”

Section: Paternal Mt Inheritancementioning

confidence: 99%

Mitochondrial DNA Introgression in the European Abalone Haliotis tuberculata tuberculata: Evidence for Experimental mtDNA Paternal Inheritance and a Natural Hybrid Sequence

Wormhoudt¹,

Roussel²,

Courtois

et al. 2010

Mar Biotechnol

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Two subspecies of the European abalone have been morphologically recognized: Haliotis tuberculata tuberculata, present in the North Atlantic, and Haliotis tuberculata coccinea, present in the Canary Islands. Among the different nuclear markers used to differentiate these two subspecies, the sperm lysin gene was the most reliable, leading to a 2.2% divergence. Concerning the subunit I of the mitochondrial cytochrome oxydase gene (COI), we observed a difference of 3.3% between the two subspecies. In the North Atlantic, an introgression of mitochondrial DNA from H. tuberculata coccinea to H. tuberculata tuberculata was evident in around 30% of individuals. Due to this difference, we were able to experimentally detect the transfer of paternal mitochondrial DNA (mtDNA) by specific quantitative polymerase chain reaction measurements. The presence of the two mtDNA signatures was also detected in 20% of individuals tested in the field. Moreover, one mt DNA hybrid sequence was identified. The sequencing of this mitochondrial DNA hybrid revealed a mosaic structure with many specific mutations. The origin of this hybrid sequence is discussed.

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Mitochondries et reproduction

Cited by 8 publications

References 35 publications

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

Polymorphism of mitochondrial DNA genes involved in asthenozoospermia in infertile patients of Côte d’Ivoire

Mitochondrial DNA Introgression in the European Abalone Haliotis tuberculata tuberculata: Evidence for Experimental mtDNA Paternal Inheritance and a Natural Hybrid Sequence

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