Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal

Pereira, Luı́sa; Gonçalves, João; Bandelt, Hans‐Jürgen

doi:10.1016/j.fertnstert.2007.03.048

Cited by 24 publications

(11 citation statements)

References 27 publications

(21 reference statements)

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“…Mitochondria, the energy metabolism factory in the cell, participates in generating Adenosine Triphosphate (ATP) through the respiratory chain to provide energy for the cellular activities. The dysfunction of mitochondria has been linked with multiple diseases, including idiopathic asthenozoospermia 6 7 8 . Mitochondrial function is jointly regulated by the nuclear and mitochondrial genomes.…”

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confidence: 99%

Mitochondria-related miR-151a-5p reduces cellular ATP production by targeting CYTB in asthenozoospermia

Zhou

Wang

Qin

et al. 2015

Sci Rep

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Mitochondria, acting as the energy metabolism factory, participate in many key biological processes, including the maintenance of sperm viability. Mitochondria-related microRNA (miRNA), encoded by nuclear genome or mitochondrial genome, may play an important regulatory role in the control of mitochondrial function. To investigate the potential role of mitochondria-related miRNAs in asthenozoospermia, we adopted a strategy consisting of initial screening by TaqMan Low Density Array (TLDA) and further validation with quantitative reverse transcriptase polymerase chain reaction (qRT-PCR). Validation of the profiling results was conducted in two independent phases. Eventually, two seminal plasma miRNAs (sp-miRs) (miR-101-3p, let-7b-5p) were found to be significantly decreased, while sp-miR-151a-5p was significantly increased in severe asthenozoospermia cases compared with healthy controls. To further study their potential roles in asthenozoospermia, we then evaluated mitochondrial function of GC-2 cells transfected with these potentially functional miRNAs. Our results demonstrated that transfection with miR-151a-5p mimics decreased the mitochondrial respiratory activity. Besides, Adenosine Triphosphate (ATP) level was decreased when transfected with miR-151a-5p mimics. In addition, Cytochrome b (Cytb) mRNA and protein levels were also decreased when miR-151a-5p was overexpressed. These results indicate that miR-151a-5p may participate in the regulation of cellular respiration and ATP production through targeting Cytb.

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confidence: 99%

Mitochondria-related miR-151a-5p reduces cellular ATP production by targeting CYTB in asthenozoospermia

Zhou

Wang

Qin

et al. 2015

Sci Rep

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“…Selvi Rani et al () reported a novel missense mutation (m.11994C>T) in the ND4 gene in oligoasthenozoospermic Indian patients (n = 34) that was absent in fertile men ( n = 150). In contrast, Pereira et al () reported the absence of this m.11994C>T mutation in their oligoasthenozoospermic infertile Portuguese patients ( n = 43), suggesting that this ND4 mutation may be population‐specific. A different m.9098T>C transition was detected only in infertile cases (Kumar et al, ), while males who had inherited the m.A3243G mtDNA mutation from their mother produced sperm with low motility and high levels of mutant mtDNA (Spiropoulos et al, ).…”

Section: Discussionmentioning

confidence: 84%

A novel m.6307A>G mutation in the mitochondrialCOXIgene in asthenozoospermic infertile men

et al. 2013

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Infertility affects 10-15% of the population, of which approximately 40% is due to male etiology and consists primarily of low sperm count (oligozoospermia) and/or abnormal sperm motility (asthenozoospermia). Recently, it has been demonstrated that mtDNA substitutions can influence semen quality. In this study, we performed a sequence analysis of the mitochondrial cytochrome oxidase I (COXI) gene in 31 infertile men suffering from asthenozoospermia in comparison to 33 normozoospermic infertile men and 100 fertile men from the Tunisian population. A novel m.6307A>G mutation was found in sperm mitochondrial DNA (mtDNA). This mutation was found in six asthenozoospermic patients, and was absent in normozoospermic and fertile men. We also detected 21 known substitutions previously reported in the Human Mitochondrial Database. The m.6307A>G mutation substitutes a highly conserved asparagine at position 135 to serine. In addition, PolyPhen-2 analysis predicted that this variant is "probably damaging.

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“…Sperm motility is one of the major determinants of male fertility. Furthermore, it has been demonstrated that mtDNA base substitutions can greatly influence semen quality and [21][22][23]. Therefore, we investigated in the present study the relationship between the sperm mtDNA COIII gene polymorphisms and male infertility.…”

Section: Discussionmentioning

confidence: 95%

Identification of a novel m.9588G > A missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men

Baklouti-Gargouri

Ghorbel

Mahmoud

et al. 2014

J Assist Reprod Genet

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Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal

Cited by 24 publications

References 27 publications

Mitochondria-related miR-151a-5p reduces cellular ATP production by targeting CYTB in asthenozoospermia

Mitochondria-related miR-151a-5p reduces cellular ATP production by targeting CYTB in asthenozoospermia

A novel m.6307A>G mutation in the mitochondrialCOXIgene in asthenozoospermic infertile men

Identification of a novel m.9588G > A missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men

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