Latest news with #mitochondrialdisease
Yahoo
4 days ago
- Health
- Yahoo
Human Babies Aren't Supposed to Have 3 Parents—but Now They Can
"Hearst Magazines and Yahoo may earn commission or revenue on some items through these links." Here's what you'll learn when you read this story: The first babies with three biological parents were born out of a new technique to prevent mitochondrial disease. The nucleus of an egg fertilized in vitro was transferred into a donor egg without a nucleus, but with viable mitochondria. Eight healthy babies, including a set of twins, were born with low to undetectable levels of mitochondrial mutations. The only creatures known to conceive offspring from more than two parents are salamanders. Females from the genus Ambystoma (which are notoriously promiscuous) mate with up to three different males, and that DNA is then incorporated into what is known as a triploid genome in their offspring. Now a version of this has become possible in humans. It seems limb regeneration isn't the only way medical intervention can put humans on salamanders' level. Being born with three genomes is not a phenomenon that occurs naturally in Homo sapiens, but in an attempt to prevent certain genetic conditions caused by mutations in the mitochondria, scientists have found a way. Mitochondrial DNA or mtDNA is exclusively passed down from the maternal side. Dysfunction in the mitochondria can lead to metabolic diseases characterized by symptoms such as seizures, developmental delays, blindness, and loss of muscular function. Some can even be fatal. Mitochondrial diseases occur in about 1 in every 5,000 people. They were previously only preventable by using a donor egg or foregoing the conception of biological children altogether. This is why pediatric neurologist Bobby McFarland, of Newcastle University in the UK, led an experimental study that would reduce and potentially eliminate the risk of mitochondrial disease with a new method of in vitro fertilization. McFarland and his research team wanted see if removing the nucleus of an egg and placing it in a donor egg with viable mitochondria would result in healthy offspring. 'We found that pronuclear transfer, a form of mitochondrial donation, was effective in reducing the level of pathogenic mtDNA variant to substantially below the threshold for clinical disease in the offspring of women with homoplasmic (or high heteroplasmic) levels,' he said in a study recently published in the New England Journal of Medicine. When mitochondria are homoplasmic, all copies produced by cell division have mutations. Mutation levels vary in heteroplasmic mitochondria. Preimplantation genetic testing (PGT) can screen for these abonormalities, and women with homoplasmy or high levels of heteroplasmy can benefit from what is now known as pronuclear transfer. This involves eggs from both the mother and donor being fertilized with the father's sperm in vitro. Nuclei are then removed from both eggs after ten hours. Since the nucleus carries most genetic material and has no connection to mitochondrial disease, the mother's nucleus is implanted into the donor egg to take advantage of its mitochondria. While there is a chance that a few of the mother's mitochondria may end up in the embryo, it is unlikely to cause a debilitating disease. Levels of defective mitochondria in offspring conceived via pronuclear transfer were low enough to escape that fate. Eight pregnancies (including a set of twins) resulted from the experiment, and while there were a few minor health problems in the newborns, these were either treatable or corrected themselves. Not only were levels of heteroplasty low for the babies, but undetectable in five of them. Developmental progress also turned out to be normal. Though one baby had a form of infant epilepsy, and another had heart arrhythmia and hyperlipidemia, or high levels of fats and lipids in the blood, both of these conditions were treated and resolved. Whether the hyperlipidemia was even caused by mtDNA is uncertain, especially because the mother also had severe hyperlipidemia during her pregnancy. Though there was a chance that any of the mothers with pathogenic mtDNA had a higher risk of complications during pregnancy, which could possibly cause their children to have health issues, there is no proof for now. 'We are assessing, over the long term, the health and extent of heteroplasmy (if detectable) of the offspring,' McFarland and his team said. 'Indeed, the role of mitochondrial donation as a choice for women with a heritable pathogenic mtDNA variant will only be established with the availability of additional data.' You Might Also Like Can Apple Cider Vinegar Lead to Weight Loss? Bobbi Brown Shares Her Top Face-Transforming Makeup Tips for Women Over 50 Solve the daily Crossword
The Guardian
20-07-2025
- Health
- The Guardian
The Guardian view on mitochondrial donation: IVF innovation leads to a cautious genetic triumph
Eight babies have been born free of a disease that can lead to terrible suffering and early death, thanks to pioneering scientists in the UK employing a form of genetic engineering that is banned in some countries, including the US and France. Ten years ago, when the government and regulators were considering whether to allow mitochondrial transfer technology, critics warned of 'Frankenstein meddling' that would lead to three-parent children. It's hard now to justify such hostility in the face of the painstaking work carried out by the scientific and medical teams at Newcastle, resulting in these healthy babies and ecstatic families. Mitochondria, like tiny battery packs, supply energy to every cell of the body. Their DNA is handed down in the egg from mother to child. In rare instances, there are genetic mutations, which means the baby may develop mitochondrial disease. About one in 5,000 people is affected by it, making it one of the most common inherited disorders. As the cell batteries fail in various organs, the child can experience a range of symptoms, from muscle weakness to epilepsy, encephalopathy, blindness, hearing loss and diabetes. In severe cases, they die young. There is no cure yet, so the aim is prevention. Women who have some damaged and some healthy mitochondria can have IVF and pre-implantation genetic testing (PGT) to select embryos that are clear of mutations or only slightly affected. The options for women with 100% mutated mitochondria used to be limited to donated eggs or adoption – until parliament changed the rules to allow the technology in 2015 and the Newcastle Fertility Centre was granted a licence by the Human Fertilisation and Embryology Authority to use it in 2017. The process does indeed involve three people. The would-be mother's egg and a donor egg are both fertilised by the man's sperm. The nucleus of the donated egg is removed and replaced by the nucleus of the woman's egg, but its healthy mitochondria remain. This composite egg is inserted into the woman's uterus. The resulting baby's DNA will be 99.9% from the parents and only 0.1% from the donor. Hardly a three-parent child. Yet there are controversies. Some countries will not permit use of the technology because of concerns over human germline genetic modification. The lab-mixed DNA will be passed to future generations, with who knows what consequences. And a question hangs over something called reversal, or reversion. The results of the Newcastle research published in the New England Journal of Medicine show that some of the embryos with healthy donated mitochondria developed mutations somewhere along the line. Mutations formed in 12% of one baby's mitochondria and 16% in another's. That was not enough to affect the babies, who were healthy, but previous work by other scientists has suggested that mutations can increase with time, and nobody yet understands why. The Newcastle scientists and medics have been highly praised for their slow and methodical work. They have brought joy to some families and hope to others. But this is still experimental technology and caution is absolutely valid. And inevitably there are cost issues. People who can afford it will no doubt pay, but the NHS is unlikely to be able to help the rest. Nonetheless, this groundbreaking research must surely be allowed to continue, albeit only in the same careful fashion.
BBC News
19-07-2025
- Entertainment
- BBC News
Woman's Hour Three-person DNA babies, Emer Kenny, Dangers of sexual strangulation
Eight babies have been born in the UK using genetic material from three people to prevent devastating and often fatal conditions. The method, pioneered by UK scientists, combines the egg and sperm from a mum and dad with a second egg from a donor woman. The technique has been legal in the UK for a decade but this is the first proof it is leading to children born free of incurable mitochondrial disease, which is normally passed from mother to child. Anita Rani is joined by Kat Kitto who has two daughters, one of whom has mitochondrial disease, and Louise Hyslop, consultant embryologist at the Newcastle Fertility Centre, to tell us more. Hit ITV crime drama Karen Pirie returns to our screens for a second series this weekend, based on the Val McDermid series of novels about a young Scottish detective. Anita is joined in the studio by showrunner, screenwriter and actor Emer Kenny to talk about bringing a new cold case to life for Karen to solve, juggling series two with a newborn, and how she's managed to combine acting and writing since landing her first big role as Zsa Zsa Carter in EastEnders at the age of 20. A Government review found that porn involving non-fatal strangulation was "rife" and its prevalence online was contributing to choking, filtering into some people's sex lives - particularly among young people. Last month it was announced that choking will be criminalised in an amendment to the Crime and Policing Bill. To discuss, Anita was joined by Professor Clare McGlynn, Professor of Law at Durham University who contributed to the review, and Dr Jane Meyrick, Associate Professor of Health Psychology at the University of the West of England, who specialises in sexual health and sexual violence. This week, throughout our series on women and gaming, we've heard about the influence that games can have in society. We've spoken to women working in the industry, and found out more about the impact gaming can have on women, but we can't shy away from the fact that there are still barriers stopping women from accessing games. Anita is joined by to Marie-Claire Isaaman, CEO of Women in Games, Nick Toole, CEO of Ukie, and Stephanie Ijoma, gamer and founder of NNESAGA, to discuss what still needs to change and how the industry can improve. Presenter: Anita Rani Producer: Corinna Jones
Sky News
18-07-2025
- Health
- Sky News
Babies born with DNA from three people in the UK - to prevent 'devastating' illness with no cure
Eight babies have been born in the UK with DNA from three people following a procedure to eliminate an incurable inherited disease. It is a major advance for the technique, called mitochondrial donation therapy, designed to prevent a life-limiting, often fatal illness caused by genetic mutations in the structures that generate energy in all our cells. It is also a test of the UK's permissive but highly regulated stance on human embryo research that allowed a technique once criticised for creating "three-parent babies" to proceed. The babies, four girls and four boys - two of them identical twins - were all born in the last five years and are healthy, according to research published in the New England Journal of Medicine. "It's a great success for these families," said Sir Doug Turnbull, emeritus professor at the University of Newcastle, who helped pioneer the treatment. "This is a devastating disease with no cure and without this technique, they would not feel that their families were free of mitochondrial disease. This gives them that opportunity." Mitochondrial disease affects around one in 5,000 babies born in the UK. Depending on the number and type of mutations in their mitochondria, the severity and type of disease can vary, but includes neurological, metabolic and developmental disorders. Only women at high risk of passing on severe disease qualify for the procedure, provided though a specialist facility at Newcastle upon Tyne Hospitals NHS Foundation Trust. The identities of the seven families and their babies are being withheld, but a mother of one of the baby boys speaking anonymously said: "The emotional burden of mitochondrial disease has been lifted, and in its place is hope, joy, and deep gratitude." How does the technique work? The procedure involves removing the genetic information from an affected mother's fertilised embryo before inserting it into one from a healthy female donor, from which the genetic information has been removed. Crucially, the hundreds of thousands of diseased mitochondria are left behind, leaving the new embryo with healthy ones present in the donor embryo. Mitochondria contain a tiny amount of their own unique genetic code, so the resulting babies carry DNA from three different people. But because it represents just 0.02% of our total DNA and has no bearing on genetic traits we inherit from our parents, researchers behind the technique, have never liked the "three-parent" moniker. However, the technique - whatever you choose to call it - isn't perfect. A total of 22 women underwent the procedure but only seven became pregnant, resulting in eight births - a 36% success rate. Five of the eight babies were born with no trace of disease. But tests on the other three revealed a small percentage of mutated mitochondria had been carried over during the procedure. While they are at levels too low to cause mitochondrial disease, the babies will require careful follow-ups to ensure they continue to develop normally. "We have designed a study specifically for that purpose," said Professor Bobby McFarland, who leads the service in Newcastle. "That's what is unique about us offering this in Newcastle because there isn't anywhere else in the world that's doing this in a regulated way." While there's good reason to expect the children will develop normally, the procedure does take medicine into new territory. Because mitochondria contain their own genetic code, girls born via the technique - carrying those from the healthy donor - will pass that on to any children they may have in future. Changing the "germ-line" in such a way has raised ethical concerns. But for seven new families, and more to follow, the procedure promises to cure a disease that has affected their families for generations.
Yahoo
18-07-2025
- Health
- Yahoo
'It was incredibly moving to hear' - York dad welcomes medical breakthrough
A YORK dad whose son was diagnosed with an extremely rare form of a life-limiting illness has welcomed news of a medical breakthrough. Sid Gornall, who lives in Holgate, has welcomed the publication of new research highlighting the early success of mitochondrial donation – a pioneering form of IVF designed to reduce the transmission of certain types of mitochondrial disease. Recommended reading: York teenager wins gold for England for third time 'These are tremendously exciting times' - sports stars back North Yorkshire estate Famous York cafe setting up shop at North Yorkshire stately home As The Press has previously reported, his son Bill, who is now 13 and goes to Manor CE School, was diagnosed with mitochondrial disease MELAS in 2020, a rare disorder that begins in childhood and mostly affects the nervous system and muscles. Bill Gornall (Image: Supplied) "The news of the breakthrough in mitochondrial donation was incredibly moving to hear," said Sid. "It gives much needed hope to any families who have children battling this devastating disease but also gives great hope for parents who have lost children. "All of the fundraising is in the hope that one day a treatment or a cure will be found. This weekend we will spend time with other families supported by the Lily Foundation and celebrate this incredible breakthrough and strengthen our resolve to spread the word about mitochondrial disease and continue fundraising to find a cure." Sid Gornall has fundraised for the Lily Foundation (Image: Supplied) The Lily Foundation is the UK's leading mitochondrial disease charity, and says the technique offers the potential for parents to have healthy, genetically related children without passing on faulty mitochondrial DNA. Liz Curtis, founder and CEO of the Surrey-based charity, said: 'After years of waiting, we now know that eight babies have been born using this technique, all showing no signs of mitochondrial disease. For many affected families, it's the first real hope of breaking the cycle of this inherited condition.' Mitochondrial disease is caused by faults in the mitochondria – tiny structures within cells that produce over 90 per cent of the body's energy. Every year, around one baby in 5000 is born with mitochondrial DNA mutations that can cause the disease. Despite years of research, there is currently no cure. Mitochondrial donation works by transferring the nuclear DNA from an affected woman's egg into a healthy donor egg with functioning mitochondria. The technique remains in the early stages and long-term outcomes are still being studied. However, this new research from the Newcastle University-based team who first pioneered the technique marks a significant milestone in what has been a years-long journey of scientific innovation, ethical debate and policy development. 'At its heart, mitochondrial donation is about choice,' said Ms Curtis. 'This breakthrough gives families more options to have healthy children and is a powerful reminder that mitochondrial research is moving forward – and hope is very much alive.' Bill and his dad, Sid (Image: Supplied)
