Scientists at Newcastle University, U.K., have identified a new genetic mechanism that can cause severe forms of male infertility. This breakthrough in understanding the underlying cause of male infertility offers hope of better treatment options for patients in the future. The study, published in Nature Communications, shows that new mutations, not inherited from father or mother, play a major role in this medical condition.
Experts have found that mutations occurring during the reproduction process, when the DNA of both parents is replicated, can result in infertility in men later in life. It is hoped that this new knowledge will help to provide more answers in the future about the cause and best treatment options available to infertile couples.
Professor Joris Veltman, Dean of Newcastle University’s Biosciences Institute, led the research. “This is a real paradigm shift in our understanding of the causes of male infertility,” he said. “At present, we don’t understand the underlying cause in the majority of infertile men, and this research will hopefully increase the percentage of men for whom we can provide answers.”
Scientists collected and studied DNA from a global cohort of 185 infertile men and their parents. They identified 145 rare protein-altering mutations that are likely to negatively impact male fertility. As many as 29 of the mutations affect genes directly involved in processes related to spermatogenesis (the process of sperm cell development) or other cellular processes related to reproduction.
“If we are able to obtain a genetic diagnosis, then we can start understanding better male infertility problems and why some infertile men still produce sperm that can be used successfully for assisted reproduction,” Veltman said. “With our information, and the research others are doing, we hope clinicians can improve counseling for couples and recommend what is the best course of action in order to conceive, either by proposing an appropriate medically assisted procedure or in cases where none is suitable, provide appropriate alternatives.”
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Phthalates are a ubiquitous family of chemicals that are used every day. In a new study, researchers have investigated how these compounds affect tissue development in the reproductive systems of female mice offspring.
“Phthalates are found everywhere: building products, personal care products, food and beverage containers, and medical equipment,” said Jodi Flaws, a professor of comparative biosciences. “My research group focuses on how exposure to these environmental chemicals during pregnancy affect the offspring.”
In the study, published in Reproductive Toxicology, pregnant mice were orally given either a control or a phthalate mixture every day from the first day of pregnancy till birth. “The reproductive system of the offspring develops during this window. The mice are no longer exposed to any phthalates after they are born,” Flaws said.
The ovaries of the female offspring were then collected 60 days after birth and the tissues and their hormone levels were analyzed. “We examined hormones such as estrogen, testosterone, and progesterone because they are important for normal fertility and tissue maintenance,” Flaws said.
The female mice whose mothers had been exposed to phthalates had lower levels of all three hormones compared to the controls. “The main takeaway message is that if mothers are exposed to phthalates during their pregnancy, it can interfere with the female offspring’s ability to make normal levels of hormones,” Flaws said. “We saw that the mixture can inhibit the expression of important genes that are involved in making hormones.
The finding that some genes are active from the get-go challenges the textbook view that genes don’t become active in human embryos until they are made up of four-to-eight cells, two or three days after fertilization.
The newly discovered activity begins at the one-cell stage — far sooner than previously thought — promising to change the way we think about our developmental origins.
The research was published in Cell Stem Cell.
Using a method called RNA-sequencing, the team revealed that hundreds of genes awaken in human one-cell embryos. Because the gene activity starts small, previous techniques had not been sensitive enough to detect it. But state-of-the art RNA-sequencing used in this study was able to reveal even small changes.
“This is the first good look at the beginning of a biological process that we all go through — the transit through the one-cell embryo stage,” said Professor Tony Perry, the study’s co-leader, from the Department of Biology and Biochemistry at the University of Bath, England. “Without genome awakening, development fails, so it’s a fundamental step.”
Understanding the process of genome awakening is a key piece of the jigsaw of development that promises a better understanding of disease, inheritance and infertility. The scientists found some activated genes that might be expected to play roles in early embryos, but the roles of others were unknown and could point to embryonic events that we don’t yet understand.
RESOLVE: The National Infertility Association, recently announced a new campaign to celebrate the 40th birthday of Elizabeth Carr, the first IVF baby born in the U.S. RESOLVE and Carr are working together to raise $40,000 for the 40 years of service to the family building community. Funds will support critical RESOLVE initiatives, including access to care programs such as Coverage at Work and advocating for state insurance laws, as well as RESOLVE’s free support group program that ensures everyone has access to the emotional support they deserve.
“In many ways, the United States is far behind other countries when it comes to access to reproductive medical care for family building, and we have a long way to go. Fundraising to support the critical advocacy work that RESOLVE does is imperative if we are going to move toward coverage for all,” said Carr.
RESOLVE kicks off the campaign with a virtual birthday card that a person can sign once they make a donation. The campaign continues through May 8, 2022, Mother’s Day. Those who donate to the campaign will be invited to join Elizabeth for a special book club with the upcoming release of her memoir, as well as be invited to the only interview with Elizabeth and her mother, Judith Carr.
“Happy Birthday Elizabeth! We’ve come so far in 40 years, but there is still so much work to be done so that access to family building options is available to everyone who needs it,” commented Barbara Collura, President/CEO of RESOLVE: The National Infertility Association. “This is an incredible milestone in family building history, and I’m so grateful that Elizabeth Carr continues to raise awareness about infertility and family building options.”
To learn more about this campaign, visit Elizabeth Carr’s personal fundraising page.
Black women are more likely than white women to have uterine fibroids, and the debilitating symptoms often have serious consequences, a recent article in the New York Times reports.
In “I Felt Like No One Truly Listened: The Invisible Toll of Fibroids on Black Women,” the article discusses the toll fibroids take on Black women’s health and, in particular, fertility.
“For unknown reasons, Black women are two to three times more likely than white women to have uterine fibroids, and are more likely to have larger and more numerous tumors and develop them earlier in life,” the article reports. “Black women are also significantly more likely to have debilitating symptoms that interfere with work, relationships and social and physical activities — which can leave them feeling fearful, depressed, helpless and alone.”
You can read the article here. Then go to our Uterine fibroids web page to learn more. And please reach out to us with any questions or concerns.
Lifestyle issues that impede fertility can often be changed by choices and behaviors. As reproductive health specialists, we encourage people having troubling getting pregnant to try these changes first, if they are applicable. Most of the lifestyle issues can affect both men and women.
So, with the New Year just around the corner, consider these changes as part of your New Year’s Resolutions for better fertility health.
- Lose weight. This is one of the primary lifestyle issues that can cause infertility in both men and women. Women who are obese or overweight may experience problems with ovulation, which reduces the effectiveness of invitro fertilization (IVF). In men, obesity can harm sperm production.
- Exercise, moderately. While consistent exercise is important to a healthy weight, women who are trying to get pregnant should avoid excessively strenuous workouts.
- Improve diet. Without proper nutrients, a woman’s body doesn’t perform tasks efficiently, including reproduction. In particular, women should limit caffeine intake. Poor nutrition can also limit sperm production in men.
- Practice safe sex. Sexually transmitted diseases (STDs) can cause infertility in women, and some STDs can block delivery of sperm in men. Safe sex with a limited number of partners is the best way to prevent infection.
- Control stress. This can disrupt hormone activity in women that regulates ovulation and can cause similar hormonal issues in men that inhibits healthy sperm.
- Avoid alcohol. Men should limit consumption, and women trying to get pregnant should avoid drinking altogether.
- Stop illicit drug use. This can cause varied reproductive related problems in both sexes.
- Limit exposure to toxins. Whether through work, outdoor activities or unhealthy indoor environments, chemicals, pesticides and other toxins can alter the hormonal balance in men and women, affecting fertility.
- Control temperature. Men should avoid things that raise the temperature of their scrotum, such as a laptop computer placed there.
Use of assisted reproductive techniques (ART) does not lead to poorer mental health in children across adolescence and young adulthood, according to a large observational study led by researchers at Karolinska Institutet in Sweden. The study was published in JAMA Psychiatry.
“These findings are overall reassuring with respect to the psychiatric health of adolescents conceived with ART, a group that we are now for the first time able to follow into early adulthood,” says the study’s corresponding author Chen Wang, doctoral student at the Department of Medical Epidemiology and Biostatistics.
Since 1978, more than 9 million children have been born following the use of assisted reproductive techniques. The knowledge about the long-term health of children conceived with ART is still limited. Now, researchers at Karolinska Institutet have conducted the first major study on mental health in young adults born in Sweden following ART.
The researchers followed more than 1.2 million people born in Sweden between 1994 and 2006, including 31,565 participants conceived with ART. The participants were between 12 and 25 years of age when the study concluded. The researchers also had access to registry-based information on clinical diagnoses of mood disorders such as major depression, anxiety, obsessive-compulsive disorder (OCD) or suicidal behavior.
“In the end, we did not find that use of ART had any adverse influence on children’s psychiatric health as they go through adolescence,” says last author Sara Öberg, associate professor at the Department of Medical Epidemiology and Biostatistics at Karolinska Institutet.
ASRM, the American Society for Reproductive Medicine, offers an online booklet addressing how fertility changes with age.
“In today’s society, age-related infertility is becoming more common because, for a variety of reasons, many women wait until their 30s to begin their families,” ASRM states. “Even though women today are healthier and taking better care of themselves than ever before, improved health in later life does not offset the natural age-related decline in fertility. It is important to understand that fertility declines as a woman ages due to the normal age-related decrease in the number of eggs that remain in her ovaries. This decline may take place much sooner than most women expect.”
You can read the entire booklet, and download a copy for free, at the ASRM web site ReproductiveFacts.org.
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