Status of genetics behind male infertility

Last Updated on

In recent years, decreasing counts and quality (motility) of semen have been identified as a possible reason for male infertility. Factors such as hormone-active compounds (so-called endocrine disruptors) released to the environment, chemicals to be found in the home, and sedentary lifestyles have been put forward as possible reasons for the phenomenon.

These de novo mutations are found in every individual and are part of the normal evolution of the genome. Normally, they do not affect the health of individuals. But in some cases they may have a strong effect on gene function and can lead to disease. So far, their role in male infertility had not been studied.

The researchers studied DNA from 108 infertile men, and also from their parents. Comparison of the parental DNA with that of the offspring enabled the identification of the de novo mutations. The researchers found 22 de novo mutations in genes involved in spermatogenesis, which had not previously known to cause infertility in humans.

The researchers will need to screen many more patients and their parents in order to search for patterns in the locations of the novel mutations, and to learn more about the function of the genes that are affected by these mutations. In the meantime it is too early to give the already tested patients a definitive diagnosis.

The de novo mutations leading to infertility can result from errors in DNA that occur during the production of sperm and egg cells of the parents, or during the early development of the embryo. Although by their very nature these spontaneous mutations cannot be predicted, in other diseases patients with a highly similar presentation of a disease (i.e., phenotype) often have mutations in the same gene. This may also apply to the many more infertile men (phenotypes of infertility) in the world who have mutations in the same group of genes as the group of patients that have been studied in the present study..

Eventually, the research will help establish new , which will be able to provide a patient with a detailed analysis of the reason for his infertility, and allow for personalised care. By establishing the molecular cause of infertility, the risk of transmitting infertility to another generation can be predicted. Infertility is not something you normally inherit from your parents; they were clearly both fertile. But with the introduction of assisted reproductive technologies, infertility may become an inherited disorder in some cases.

See here a sequence on how genetics may affect infertility:

Print Friendly, PDF & Email

Tags: , , , , , , , , , , ,
About the Author
thassodotcom Ph.D.; Professor in Pharmacology and Toxicology. Senior expert in theragenomic and personalized medicine and individualized drug safety. Senior expert in pharmaco- and toxicogenetics. Senior expert in human safety of drugs, chemicals, environmental pollutants, and dietary ingredients.

Leave a Reply

Optional: Social Subscribe/Login

Notify of

thasso: conditions

thasso: tweets

thasso post: magazine

View my Flipboard Magazine.

thasso: categories

thasso: archives

thasso: simple chat

You must be a registered user to participate in this chat.

  • Bridging surface plasmon polaritons and the digital world November 22, 2019
    Although the concept of digital coding metamaterial has been proposed to link the digital world and physical world, it is still challenging to manipulate the digital signals in confined electromagnetic waves in deep-subwavelength scale. Scientists in China and Singapore reported a breakthrough on digital spoof surface plasmon polariton (SSPP) metamaterial to achieve the combination of […]
  • Combination of immunotherapy and VEGF inhibitor improves survival in HCC November 22, 2019
    Combination therapy with the PD-L1 inhibitor atezolizumab and the VEGF inhibitor bevacizumab significantly improves overall survival and progression-free survival in patients with unresectable hepatocellular carcinoma (HCC) compared to standard of care, showed results from a phase 3 study to be reported at the ESMO Asia 2019 Congress.
  • Scientists reveal the dominant role of quenched disorder on complex oxide nanowires November 22, 2019
    At nanometer length scale, novel phenomena are expected to emerge. Compared to the traditional semiconductors used in industrial business, does complex oxides show any interesting and not-before-seen properties at nanometer length scale? A new study published in SCIENCE CHINA Physics, Mechanics & Astronomy has shown the unique physical properties of manganite nanowires known as quenched […]
  • Association between parents' education level and youth outcomes November 22, 2019
    Ethnic and racial differences between educational attainment by parents and outcomes among young people related to behavior, academics and health were explored in this observational study. The study included 10,619 adolescents ages 12 to 17 who participated in a nationally representative survey.
  • Changing experiences of the natural world November 22, 2019
    Digital innovations have the potential to bring people closer to nature, to help ensure there is the necessary strong public support for conservation measures.