Latest news with #Oxford University
Daily Mail
3 days ago
- Health
- Daily Mail
Hope as scientists discover cause of debilitating back pain affecting thousands
Scientists have pinpointed the cause of a debilitating back problem that affects thousands, leading to hope that it could pave the way for new treatments. Until now the exact driver of axial spondyloarthritis (SpA) – a form of chronic inflammatory arthritis – has not been known. Experts knew that patients diagnosed with the condition had an abundance of an inflammatory protein known as Interleukin-17 (IL-17) but were unsure why. Now researchers at Oxford University alongside the charity Versus Arthritis have found it is caused by a specific cell found in tissue around joints. Rather than circulating around the body, the team found that in patients with the condition these cells became trapped in the joints, producing inflammation in the area, which led to SpA. About 200,000 people in the UK are thought to have axial spondyloarthritis. While it primarily affects the spine, it can also inflame joints elsewhere. The first symptom is typically back and buttock pain that wakes patients in the night and is worse in the morning. Those affected often experience fatigue, and are more likely to develop the red, itchy skin condition psoriasis and irritable bowel disease. Symptoms usually appear before the age of 45. Experts have previously suggested up to 90 per cent of cases are hereditary. Over time it can be disabling as it can cause bones in the spine to fuse together. 'This is a significant step forward,' said Dr. Liye Chen, Versus Arthritis fellow at Oxford and senior author of the study. 'We've identified CD4+ TRM17 cells as the main source of IL-17 in SpA joints – a previously unrecognised role.' Experts say the discovery could lead to new treatments for the estimated 50 per cent of patients who do not respond well to current options. Dr. Chen explained: 'Current IL-17-blocking therapies benefit about half of SpA patients but require ongoing treatment and rarely lead to lasting remission. 'By targeting the CD4+ TRM17 cells themselves – the "factories" of IL-17 – we may be able to achieve long-term control of inflammation without continuous medication.'
CNA
17-07-2025
- Health
- CNA
Three-person IVF technique spared children from inherited diseases, scientists say
Eight children in the UK have been spared from devastating genetic diseases thanks to a new three-person in vitro fertilization technique, scientists from Newcastle University reported on Wednesday. The technique, which is banned in the United States, transfers pieces from inside the mother's fertilized egg - its nucleus, plus the nucleus of the father's sperm - into a healthy egg provided by an anonymous donor. The procedure prevents the transfer of mutated genes from inside the mother's mitochondria - the cells' energy factories - that could cause incurable and potentially fatal disorders. Mutations in mitochondrial DNA can affect multiple organs, particularly those that require high energy, such as the brain, liver, heart, muscles and kidneys. One of the eight children is now 2 years old, two are between ages 1 and 2, and five are infants. All were healthy at birth, with blood tests showing no or low levels of mitochondrial gene mutations, the scientists reported in the New England Journal of Medicine. All have made normal developmental progress, they said. The results "are the culmination of decades of work," not just on the scientific/technical challenges but also in ethical inquiry, public and patient engagement, law-making, drafting and execution of regulations, and establishing a system for monitoring and caring for the mothers and infants, reproductive medicine specialist Dr. Andy Greenfield of the University of Oxford, who was not involved in the research, said in a statement. The researchers' "treasure trove of data" is likely to be the starting point of new avenues of investigation, Greenfield said. Often during IVF screening procedures, doctors can identify some low-risk eggs with very few mitochondrial gene mutations that are suitable for implantation. But sometimes all of the eggs' mitochondrial DNA carries mutations. In those cases, using the new technique, the UK doctors first fertilize the mother's egg with the father's sperm. Then they remove the fertilized egg's 'pronuclei' – that is, the nuclei of the egg and the sperm, which carry the DNA instructions from both parents for the baby's development, survival and reproduction. Next, they transfer the egg and sperm nuclei into a donated fertilized egg that has had its pronuclei removed. The donor egg will now begin to divide and develop with its healthy mitochondria and the nuclear DNA from the mother's egg and the father's sperm. This process, detailed in a second paper in the journal, 'essentially replaces the faulty mitochondrial DNA (mtDNA) with healthy mtDNA from the donor,' senior researcher Mary Herbert, professor of reproductive biology at Newcastle, said at a press briefing. Blood levels of mtDNA mutations were 95 per cent to 100 per cent lower in six newborns, and 77 per cent to 88 per cent lower in two others, compared to levels of the same variants in their mothers, the researchers reported in a second paper. "These data indicate that pronuclear transfer was effective in reducing transmission of mtDNA disease," they said. The procedure was tested in 22 women whose babies were likely to inherit such genes. In addition to the eight women who delivered the children described in this report, another one of the 22 is currently pregnant. Seven of the eight pregnancies were uneventful; in one case, a pregnant woman had blood tests showing high lipid levels. There have been no miscarriages. The authors of the current reports have also tried transplanting the nucleus of a mother's unfertilized egg into a donor egg and then fertilizing the donor egg afterward, but they believe their new approach may more reliably prevent transmission of the genetic disorders. In 2015, the UK became the first country in the world to legalize research into mitochondrial donation treatment in humans. That same year in the United States, pronuclear transfer was effectively banned for human use by a congressional appropriations bill that prohibited the Food and Drug Administration from using funds to consider the use of "heritable genetic modification".
