Andrology: Mitochondrial disease and reduced sperm motility

Folgerø, Terese; Bertheussen, Kjell; Lindal, Sigurd; Torbergsen, T.; Øian, Pål

doi:10.1093/oxfordjournals.humrep.a137950

Cited by 175 publications

(112 citation statements)

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“…A s t h e n o z o o s p e r m i a o r oligoasthenozoospermia has been reported previously in patients suffering from typical mtDNA diseases [123,124]. Other studies have shown a correlation between the quality of the sperm and the functionality of the respiratory chain in sperm mitochondria [125].…”

Section: The Usp26 Gene Mutationsmentioning

confidence: 80%

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

107

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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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Section: The Usp26 Gene Mutationsmentioning

confidence: 80%

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

107

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“…If the mitochondria are dysfunctional they may be incapable of providing sufficient ATP for optimal motility (Folgero et al, 1993). In this study we probed the mitochondrial genome in the region located between the D loop and Cox II gene.…”

Section: Discussionmentioning

confidence: 99%

A comparison of mitochondrial and nuclear DNA status in testicular sperm from fertile men and those with obstructive azoospermia

O’Connell

McClure²,

Lewis

2002

Human Reproduction

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BACKGROUND: Mitochondria are vital to sperm as their motility powerhouses. They are also the only animal organelles with their own unique genome; encoding subunits for the complexes required for the electron transfer chain. METHODS: A modified long PCR technique was used to study mitochondrial DNA (mtDNA) in ejaculated and testicular sperm samples from fertile men undergoing vasectomy (n ⍧ 11) and testicular sperm from men with obstructive azoospermia (n ⍧ 25). Nuclear DNA (nDNA) fragmentation was measured by an alkaline gel electrophoresis (comet) assay. RESULTS: Wild-type mtDNA was detected in only 60% of fertile men's testicular sperm, 50% of their ejaculated sperm and 46% of testicular sperm from men with obstructive azoospermia. The incidence of mitochondrial deletions in testicular sperm of fertile and infertile men was not significantly different, but the mean size of the deletions was significantly less in testicular sperm from fertile men compared with men with obstructive azoospermia (P < 0.02). NDNA fragmentation in testicular sperm from fertile men and men with obstructive azoospermia was not significantly different. CONCLUSION: Multiple mtDNA deletions are common in testicular and ejaculated sperm from both fertile and infertile men. However, in males with obstructive azoospermia, the mtDNA deletions in testicular sperm are of a larger scale.Key words: human sperm/male infertility/mitochondrial and nuclear DNA/obstructive azoospermia/ROS

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“…Magnification, ϫ13,000). motility by yet unknown mechanisms (40,41). One simple explanation may be insufficient energy production to sustain forward motility and cell volume regulation.…”

Section: Figmentioning

confidence: 99%

Essential Role of the Apolipoprotein E Receptor-2 in Sperm Development

Andersen

Yeung²,

Vorum

et al. 2003

Journal of Biological Chemistry

103

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The apolipoprotein (apo) E receptor-2 (apoER2) is a member of the low density lipoprotein receptor gene family and an important regulator of neuronal migration. It acts as a receptor for the signaling factor Reelin and provides positional cues to neurons that migrate to their proper position in the developing brain. Besides brain formation defects, apoER2-deficient mice also exhibit male infertility. The role of the receptor in male reproduction, however, remained unclear. Here we demonstrate that apoER2 is highly expressed in the initial segment of the epididymis, where it affects the functional expression of clusterin and phospholipid hydroperoxide glutathione peroxidase (PHGPx), two proteins required for sperm maturation. Reduced PHGPx expression in apoER2 knockout mice results in the inability of the sperm to regulate the cell volume and in abnormal sperm morphology and immotility. Because insufficient expression of PHGPx is a major cause of infertility in men, these findings not only highlight an important new function for apoER2 that is unrelated to neuronal migration, but they also suggest a possible role for apoER2 in human infertility.Apolipoprotein (apo) E receptor-2 (apoER2) 1 is a member of the low density lipoprotein (LDL) receptor gene family and a prototype receptor that acts both in endocytosis and in signal transduction (1-4). In particular, apoER2 functions as a cellular receptor for Reelin, a signaling factor that regulates neuronal migration processes in the embryonic brain. Reelin binds to apoER2 and to the related very low density lipoprotein receptor on the surface of post-mitotic neurons that migrate to their proper position in the developing brain (2, 5). Binding of Reelin results in tyrosine phosphorylation of Disabled 1, an adaptor protein bound to the receptor tails, and in activation of downstream signaling pathways involving the Src family of tyrosine kinases and phosphatidylinositol 3-kinase (4, 6 -8). Defects in these signaling cascades as in apoER-2-deficient mice cause abnormal layering of neurons in the cortex, hippocampus, and cerebellum (9).Aside from post-mitotic neurons in the brain, apoer2 transcripts are also abundant in the placenta, the ovaries, and the epididymis (1, 3, 10). The function of the receptor in these tissues, however, remains unclear. In the present study, we aimed at elucidating novel roles for apoER2 in tissues other than the brain. We focused our attention on the male reproductive system because apoER2 is highly expressed in the principal cells of the epididymis (3) and because receptor-deficient mice suffer from male infertility (9). Here we have identified a crucial role for the receptor in sperm maturation, in particular in the acquisition and development of sperm motility. EXPERIMENTAL PROCEDURESMaterials-The generation of apoER2-deficient mice has been described before (9). Because of male infertility, the line was bred in-house by mating of homozygous-deficient (apoer2 Ϫ/Ϫ ) females with males heterozygous for the receptor gene defect (apoer2 ϩ/Ϫ )...

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Andrology: Mitochondrial disease and reduced sperm motility

Cited by 175 publications

References 0 publications

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

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

A comparison of mitochondrial and nuclear DNA status in testicular sperm from fertile men and those with obstructive azoospermia

Essential Role of the Apolipoprotein E Receptor-2 in Sperm Development

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