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Related Concept Videos

Infertility in Males01:23

Infertility in Males

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Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
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Genome Copying Errors02:46

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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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Animal Mitochondrial Genetics02:59

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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Updated: Feb 25, 2026

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
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Increased Total mtDNA Copy Number Cures Male Infertility Despite Unaltered mtDNA Mutation Load.

Min Jiang1, Timo Eino Sakari Kauppila1, Elisa Motori1

  • 1Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, 50931 Cologne, Germany.

Cell Metabolism
|August 3, 2017
PubMed
Summary

Mitochondrial DNA (mtDNA) copy number, not just mutation load, impacts disease severity. Increasing mtDNA copy number can reverse male infertility caused by mtDNA mutations, offering new therapeutic avenues.

Keywords:
POLGATFAMinfertilitymitochondriamtDNAmutator mousespermatogenesis

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Area of Science:

  • Mitochondrial biology
  • Genetics
  • Reproductive medicine

Background:

  • Mutations in mitochondrial DNA (mtDNA) are linked to mitochondrial diseases, aging, and age-associated conditions.
  • The impact of pathogenic mtDNA mutations on cellular function is debated, focusing on whether mutant proportion or wild-type molecule number is critical.

Purpose of the Study:

  • To investigate the role of mitochondrial DNA (mtDNA) copy number in a male infertility model caused by mtDNA mutations.
  • To determine if modulating mtDNA copy number can rescue mitochondrial dysfunction and restore fertility.

Main Methods:

  • Utilized mtDNA mutator mice exhibiting a male infertility phenotype.
  • Manipulated mtDNA copy number in testes to assess its effect on mitochondrial health and sperm function.
  • Analyzed testes morphology, spermatocyte proteome, and overall fertility.

Main Results:

  • Decreased mtDNA copy number exacerbated mitochondrial aberrations in male germ cells.
  • Increased mtDNA copy number rescued the fertility phenotype, normalizing testes morphology and spermatocyte proteome.
  • Restoration of testicular function occurred independently of changes in the total mtDNA mutation load.

Conclusions:

  • mtDNA copy number is a critical factor in mitigating the effects of mtDNA mutations.
  • Increasing mtDNA copy number can ameliorate severe disease phenotypes caused by mtDNA mutations, such as male infertility.
  • This finding has significant implications for developing novel therapeutic strategies for mitochondrial dysfunction.