Large study identified new genetic link to male infertility
2021-04-01
(Press-News.org) The findings published in eLife show that men with this unstable subtype of the Y chromosome have a significantly increased risk of genomic rearrangements. These rearrangements affect the sperm production process (spermatogenesis) and consequently, these men can be up to nine times more likely to have fertility issues. Molecular diagnostics of this genetic variant could help identify those at higher risk in their early adulthood, giving them the chance to make decisions about future family planning early on. Currently, the exact cause of infertility remains unknown in more than half of men with spermatogenic impairment.
In the large-scale study led by geneticist Pille Hallast and conducted in cooperation between the Human Genetics Research Group of the University of Tartu Institute of Biomedicine and Translational Medicine, the Andrology Centre of Tartu University Hospital and the Wellcome Sanger Institute, the Y chromosomes of more than 2,300 Estonian men were analysed. The men were involved in the study at the Andrology Centre of Tartu University Hospital by the team of Professor Margus Punab.
The Y-chromosomal region studied in this paper has been associated with male infertility before, but this is the first time the genetic variation of such a large clinical sample has been investigated. According to Hallast, this is the most sophisticated in-depth analysis of the genetic variation of Y chromosome in patients with spermatogenic impairment.
One of the senior co-authors of the study, Professor of Human Genetics of the University of Tartu Maris Laan said that the previously undescribed subtype of Y chromosome discovered in cooperation with colleagues from the UK causes a high risk of severe spermatogenic impairment. "At one point during evolution, the 'ancestor' of these Y chromosomes experienced the inversion of a long DNA segment, causing instability in this Y chromosome and predisposing to the deletion of surrounding DNA segments," explained Laan.
This inverted Y chromosome variant is relatively common and does not always lead to partial deletion of DNA or fertility issues. Therefore, it can be passed down in families and remain unnoticed until an offspring has infertility issues. According to estimates, in this Y lineage, the deletion of genetic material that harms spermatogenesis occurs in about one man in ten or even less often. This subtype is carried by a significant number of men of European descent, but it is not found as widely in other continents. In Estonia, it can be found in 5-6% of men, but in Poland and Czechia, the figure is nearly 20%.
The world's leading population geneticist Dr. Chris Tyler-Smith, collaborator working at the Wellcome Sanger Institute, underlined the need for more synergetic research between teams in population and reproductive genetics to map unfavourable Y-chromosomal variants linked to impaired spermatogenesis and understand how these have evolved and survived demographically.
Professor Maris Laan emphasised the potential practical value of molecular diagnostics of this research, as early identification of the genetic reason of male spermatogenic impairment could allow a more focused clinical management of infertile couples. "While the deletions in the studied Y chromosome region were previously known to interfere with sperm production, we now know that the deletion of DNA sequences leads to the genetic predisposition to infertility depending on the Y-chromosomal lineage," she added.
INFORMATION:
[Attachments] See images for this press release:
ELSE PRESS RELEASES FROM THIS DATE:
2021-04-01
Infants born by cesarean section have a relatively meager array of bacteria in the gut. But by the age of three to five years they are broadly in line with their peers. This is shown by a study that also shows that it takes a remarkably long time for the mature intestinal microbiota to get established.
Fredrik Bäckhed, Professor of Molecular Medicine at Sahlgrenska Academy, University of Gothenburg, has been heading this research. The study, conducted in collaboration with Halland County Hospital in Halmstad, is now published in the journal Cell Host & Microbe.
Professor Bäckhed and his group have previously demonstrated that the composition of children's intestinal microbiota is affected by their mode of delivery and ...
2021-04-01
The current method of manufacturing carbon nanotubes--in essence rolled up sheets of graphene--is unable to allow complete control over their diameter, length and type. This problem has recently been solved for two of the three different types of nanotubes, but the third type, known as 'zigzag' nanotubes, had remained out of reach. Researchers with Japan's National Institutes of Natural Sciences (NINS) have now figured out how to synthesize the zigzag variety.
Their method is described in the journal Nature Chemistry, published on January 25.
Thanks to carbon's unique capacity to combine ...
2021-04-01
Although beef is one of the most consumed foods around the world, eating it when it's past its prime is not only unsavory, but also poses some serious health risks. Unfortunately, available methods to check for beef freshness have various disadvantages that keep them from being useful to the public. For example, chemical analysis or microbial population evaluations take too much time and require the skills of a professional. On the other hand, non-destructive approaches based on near-infrared spectroscopy require expensive and sophisticated equipment. Could artificial intelligence be the key to a more cost-effective way to assess the freshness of beef?
At Gwangju Institute of Science and Technology (GIST), Korea, a team of scientists led by Associate Processors Kyoobin Lee and ...
2021-04-01
A study by KAIST researchers revealed that an ionized gas jet blowing onto water, also known as a 'plasma jet', produces a more stable interaction with the water's surface compared to a neutral gas jet. This finding reported in the April 1 issue of Nature will help improve the scientific understanding of plasma-liquid interactions and their practical applications in a wide range of industrial fields in which fluid control technology is used, including biomedical engineering, chemical production, and agriculture and food engineering.
Gas jets can create dimple-like depressions in liquid surfaces, and this phenomenon is familiar to anyone who has seen the cavity produced by blowing air through a straw ...
2021-04-01
How do our facial expressions in response to seeing others in pain influence how we see and feel their pain? There are many situations where it may be helpful to suppress our emotional responses to the pain of others. For example, doctors are trained to regulate their emotional responses to the pain of their patients, which may help them to avoid exhausting their own cognitive and emotional resources. Understanding whether suppressing our own facial expressions in response to other's pain reduces our ability to empathize with them has important implications for a variety ...
2021-04-01
Mount Sinai Researchers Find "Removal of AKAP11 Protein by Autophagy as a key to Fuel Mitochondrial Metabolism and Tumor Cell Growth through activating protein kinase A (PKA) (Patent pending)"
Corresponding Author: Zhenyu Yue, PhD, Professor of Neurology, Aidekman Family Professorship, Director of Basic and Translational Research in Movement Disorders, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai.
Bottom Line: We uncovered a mechanism that tumor cells exploit selective autophagy for metabolic reprogramming that benefits tumor cell growth and offers resistance to glucose deprivation. Our study suggests that AKAP220-mediated autophagy as a novel therapeutic target for specific cancer treatment.
Results: Autophagy is a lysosome degradation pathway that is cytoprotective ...
2021-04-01
How plants will fare as carbon dioxide levels continue to rise is a tricky problem and, researchers say, especially vexing in the tropics. Some aspects of plants' survival may get easier, some parts will get harder, and there will be species winners and losers. The resulting shifts in vegetation will help determine the future direction of climate change.
To explore the question, a study led by the University of Washington looked at how tropical forests, which absorb large amounts of carbon dioxide, might adjust as CO2 continues to climb. Their results show ...
2021-04-01
Chestnut Hill, MA (4/1/2021) - A gender gap in negotiation emerges as early as age eight, a finding that sheds new light on the wage gap women face in the workforce, according to new research from Boston College's Cooperation Lab, lead by Associate Professor of Psychology and Neuroscience Katherine McAuliffe.
The study of 240 boys and girls between ages four and nine, published recently in the journal Psychological Science, found the gap appears when girls who participated in the study were asked to negotiate with a male evaluator, a finding that mirrors the dynamics of the negotiation gap that persists between ...
2021-04-01
Statement Highlights:
Two-thirds of people with heart disease are ages 60 and older.
People who have had a heart attack or stroke are 20 times more likely to have additional cardiac events compared to people without heart disease.
Lifestyle modifications and medication adherence are key strategies to address heart disease.
Mobile health technology, which incorporates apps, devices, texting and phone calls, can inform and monitor older adults to support lifestyle modifications.
DALLAS, April 1, 2021 -- Mobile health technology can be beneficial in encouraging lifestyle behavior changes and medication adherence among adults ages 60 and older with existing heart disease, yet more research is needed to determine what methods are the most effective, according to a new scientific statement ...
2021-04-01
New research, led by scientists at the University of Nottingham, suggests that the environment in which men live may affect their reproductive health.
The research, published in Scientific Reports, looked at the effects of geographical location on polluting chemicals found in dog testes, some of which are known to affect reproductive health. The unique research focused on dogs because, as a popular pet, they share the same environment as people and are effectively exposed to the same household chemicals as their owners.
The team also looked for signs of abnormalities ...
LAST 30 PRESS RELEASES:
[Press-News.org] Large study identified new genetic link to male infertility
