Latest news with #TonyMerriman
Otago Daily Times
2 days ago
- Health
- Otago Daily Times
Discovery of genes relevant to disease a ‘eureka moment'
University of Otago microbiologist and immunologist Dr Tony Merriman. PHOTO: SUPPLIED Treatment for calcium pyrophosphate deposition (CPPD) disease — more commonly known as inflammatory arthritis — may soon take a major step forward following a major discovery by a University of Otago researcher. There is an unmet need for treatment of CPPD disease, which focuses on the alleviation of inflammation with non-steroidal anti-inflammatory drugs. But University of Otago microbiologist and immunologist Dr Tony Merriman has led an analysis of the genes of 550,000 Americans with the disease, while based at the University of Alabama, Birmingham. It is a first-of-its-kind genome-wide association study into the disease and the research found two genes — RNF144B and ENPP1 — that cause the debilitating calcium pyrophosphate crystal deposits in joints. He said the genes were detected both in people of European ancestry and African ancestry. "The most significant result of our research was the discovery of one of the genes, ENPP1. "The protein encoded by this gene controls the production of chemicals — adenosine monophosphate and inorganic pyrophosphate — that, together with calcium ions, lead to the formation of the CPP crystals," Dr Merriman said. Little is known about the other gene — RNF144B — aside from the possibility it is involved in inflammation. More was known about ENPP1 and of its potential importance to people with CPPD disease. Drugs targeting the protein have been developed in the treatment of infectious disease and cancer and they could now be evaluated for the treatment of CPPD disease. Dr Merriman said the discovery opened up promising new avenues for targeted prevention and treatment of CPPD disease, which were lacking at present. Co-investigator and Brigham and Women's Hospital rheumatology, inflammation and immunity division researcher Dr Sara Tedeschi said the genome-wide association with ENPP1 was "particularly exciting" as a rheumatologist because "it makes sense". "ENPP1 generates inorganic pyrophosphate, one of the components of CPP crystals. "Patients with CPPD disease are desperate for an effective treatment and trials testing ENPP1 inhibitors in CPPD disease would be of great interest." Dr Merriman said the researchers were "thrilled" about the potential impact of their discovery and the possibility of new drugs being developed for the treatment of CPPD disease. "The findings of this study produced a 'eureka moment', which can be rare in a scientist's career."
Yahoo
20-05-2025
- Health
- Yahoo
Huge Study Reveals Where Gout Comes From, And It's Not What We Thought
Gout is often associated with drinking too much or not eating healthily enough, but research suggests genetics play more of a factor in developing the arthritic condition than previously thought. A recent study, carried out by an international team of scientists, looked at genetic data collected from 2.6 million people across 13 different cohorts of DNA data. That number included 120,295 people with "prevalent gout". By comparing the genetic codes of the people with gout against the people without, the team found 377 specific DNA regions where there were variations specific to having the condition – 149 of which hadn't been previously linked to gout. While lifestyle and environmental factors are certainly still in play, the findings suggest genetics play a major role in determining whether or not someone gets gout – and the researchers think there may be more undiscovered genetic links still to be found, too. Watch the video below for a summary of the research; "Gout is a chronic disease with a genetic basis and is not the fault of the sufferer – the myth that gout is caused by lifestyle or diet needs to be busted," said epidemiologist Tony Merriman from the University of Otago in New Zealand, when the study was published last year. Gout takes hold when there are high levels of uric acid in the blood, which then form sharp crystal needles in the joints. When the body's immune system starts to attack those crystals, it leads to significant pain and discomfort. Genetics is important in every stage of that process, the researchers suggest. Particularly, it affects the likelihood of the body's immune system attacking the crystals, and in the way uric acid is transported around the body. Gout can come and go, but there are treatments available – and the authors behind the study think misconceptions can put people off getting those treatments. That's a real problem with cases of the condition rising and rising. "This widespread myth causes shame in people with gout, making some people more likely to suffer in silence and not go and see the doctor to get a preventive drug that lowers urate in the blood and will prevent their pain," said Merriman. On top of giving us a better understanding of the causes of gout, the study gives scientists more options to explore when it comes to treatments, particularly in terms of managing the body's immune response to the build up of uric acid. In fact, existing drugs could be repurposed for this job. There are some limitations to the study: the majority of the data was from people of European ancestry, and some records relied on the self-reporting of gout rather than a clinical diagnosis. Nevertheless, it gives us a much better sense of a health problem that's been afflicting people for centuries. "We hope that, in time, better and more accessible treatments will become available with the new targets we identified," said Merriman. "Gout deserves more health spend resource and greater prioritization in the health system." The research was published in Nature Genetics. An earlier version of this article was published in November 2024. Should You Shower in The Morning or Night? It Depends on One Crucial Factor. Your Voice Could Hide The Tell-Tale Signs of Parkinson's Disease World's First Bladder Transplant Gives Cancer Patient New Hope
Jordan News
15-02-2025
- Health
- Jordan News
Genetic Factors: The Primary Cause of Gout - Jordan News
Gout is often linked to excessive alcohol consumption or an unhealthy diet, but research suggests that genetic factors play a much larger role in the development of this inflammatory joint condition than previously thought. اضافة اعلان A recent study conducted by an international team of scientists analyzed genetic data from 2.6 million people across 13 different DNA datasets , including 120,295 individuals with prevalent gout . By comparing the genetic codes of those with and without gout, researchers identified 377 specific regions in the DNA linked to the condition, 149 of which had never been previously associated with gout . While environmental factors and lifestyle choices still play a role, the findings indicate that genetics is the primary determinant of whether a person develops gout. Scientists believe that there may still be undiscovered genetic links contributing to the disease. Gout: A Genetic Condition, Not a Lifestyle Mistake Tony Merriman, an epidemiologist from the University of Otago, New Zealand , stated, "Gout is a chronic disease with a genetic basis—it's not the patient's fault. The myth that gout is simply caused by lifestyle or diet needs to be dispelled." Gout occurs when high levels of uric acid accumulate in the blood, leading to the formation of sharp crystals in the joints . When the immune system attacks these crystals, severe pain and inflammation follow. According to Nature Genetics , genetics influence every stage of this process, particularly how the immune system responds to these crystals and how uric acid is transported in the body. The Impact of Misconceptions on Treatment Gout can be episodic , but treatments are available . However, misconceptions about the disease discourage many patients from seeking medical help. Merriman explained, "The widespread myth that gout is self-inflicted leads to stigma, making many sufferers hesitate to see a doctor for preventive medication that lowers uric acid levels and alleviates their pain." Beyond improving understanding of gout's causes, the study also presents new treatment possibilities , particularly in managing the immune system's response to uric acid accumulation. Existing medications could potentially be repurposed for this purpose. Study Limitations Most of the study data came from European populations , and some records were based on self-reported gout cases rather than clinical diagnoses. However, the findings offer a deeper insight into a health issue that has affected people for centuries. Merriman added, "We hope that over time, better and more accessible treatments will emerge, using the new genetic targets we've identified. Gout deserves greater healthcare resources and priority in medical systems." Understanding Gout: Symptoms and Causes What is Gout? Gout is a complex form of arthritis that can affect anyone. It is characterized by sudden, intense pain, swelling, redness, and tenderness in one or more joints— most commonly the big toe . A gout attack can occur suddenly , often waking a person up in the middle of the night with a burning sensation in the affected joint, which becomes hot, swollen, and extremely painful to touch . Symptoms of Gout Gout symptoms often appear suddenly , typically at night, and include: Severe joint pain – Commonly in the big toe , but also in the ankles, knees, elbows, wrists, and fingers. Pain peaks within 4 to 12 hours . – Commonly in the , but also in the ankles, knees, elbows, wrists, and fingers. Pain . Lingering discomfort – Even after the worst pain subsides, discomfort may persist in the joints for days to weeks . – Even after the worst pain subsides, discomfort may persist in the joints for . Inflammation and redness – Affected joints become swollen, warm, tender, and reddish in color . – Affected joints become . Limited range of motion – As gout worsens, moving the affected joints may become difficult. What Causes Gout? According to the Mayo Clinic , gout occurs when uric acid crystals accumulate in the joints, causing inflammation and intense pain . Uric acid forms when the body breaks down purines , substances found naturally in the body and certain foods . Foods high in purines include: Red meat and organ meats (like liver) (like liver) Certain seafood (anchovies, sardines, mussels, scallops, trout, and tuna) (anchovies, sardines, mussels, scallops, trout, and tuna) Alcoholic beverages , especially beer , especially Sugary drinks with fructose Normally, uric acid dissolves in the blood and is excreted through the kidneys in urine. However, if the body produces too much uric acid or the kidneys fail to eliminate enough , uric acid accumulates, forming needle-like crystals in the joints, leading to pain, swelling, and inflammation . While diet and lifestyle contribute to gout, this study underscores the significant role of genetics , shifting the focus from personal habits to biological predisposition.
Arab Times
13-02-2025
- Health
- Arab Times
Massive study unveils surprising causes of gout – it's not just poor diet
NEW YORK, Feb 13: Gout, a condition often linked to poor lifestyle choices such as excessive drinking or unhealthy eating habits, may actually be more strongly influenced by genetics than previously thought. A recent international study sheds new light on the genetic factors contributing to the development of this painful form of arthritis. The study, which analyzed genetic data from 2.6 million people across 13 different cohorts, including 120,295 individuals with "prevalent gout," identified 377 distinct DNA regions with variations associated with the condition. Among these, 149 regions had never been linked to gout before. This discovery challenges the long-standing belief that gout is primarily caused by lifestyle and environmental factors, suggesting instead that genetics play a significant role. Epidemiologist Tony Merriman from the University of Otago in New Zealand, who was involved in the study, emphasized the need to dispel the myth that gout is caused by poor diet or lifestyle choices. "Gout is a chronic disease with a genetic basis and is not the fault of the sufferer – the myth that gout is caused by lifestyle or diet needs to be busted," Merriman said in a statement following the study's publication. Gout occurs when there are elevated levels of uric acid in the blood, leading to the formation of sharp crystal needles in the joints. When the immune system attacks these crystals, it results in severe pain and discomfort. The study suggests that genetics play a key role in both the likelihood of the immune system attacking the crystals and how uric acid is transported throughout the body. While lifestyle factors remain important, this research highlights the genetic influence on gout and suggests that more genetic links may still be uncovered. As gout cases continue to rise, many individuals suffer in silence due to the stigma associated with the condition. Merriman explained that the misconceptions about gout often prevent people from seeking medical treatment, which can prevent further pain and discomfort. "This widespread myth causes shame in people with gout, making some people more likely to suffer in silence and not go and see the doctor to get a preventive drug that lowers urate in the blood and will prevent their pain," he said. The findings also open the door to new treatment options, particularly in managing the body's immune response to the buildup of uric acid. Existing medications may even be repurposed to address this aspect of the disease. However, the study's limitations include the overrepresentation of individuals of European ancestry and the reliance on self-reported gout data rather than clinical diagnoses. Despite these limitations, the study provides valuable insight into the causes of gout and could pave the way for improved treatments. "We hope that, in time, better and more accessible treatments will become available with the new targets we identified," said Merriman. "Gout deserves more health spend resources and greater prioritization in the health system." The research was published in Nature Genetics.
Yahoo
12-02-2025
- Health
- Yahoo
Huge Study Shows Where Gout Comes From – It's Not What We Thought
Gout is often associated with drinking too much or not eating healthily enough, but research suggests genetics play more of a factor in developing the arthritic condition than previously thought. A recent study, carried out by an international team of scientists, looked at genetic data collected from 2.6 million people across 13 different cohorts of DNA data. That number included 120,295 people with "prevalent gout". By comparing the genetic codes of the people with gout against the people without, the team found 377 specific DNA regions where there were variations specific to having the condition – 149 of which hadn't been previously linked to gout. While lifestyle and environmental factors are certainly still in play, the findings suggest genetics play a major role in determining whether or not someone gets gout – and the researchers think there may be more undiscovered genetic links still to be found, too. "Gout is a chronic disease with a genetic basis and is not the fault of the sufferer – the myth that gout is caused by lifestyle or diet needs to be busted," said epidemiologist Tony Merriman from the University of Otago in New Zealand, when the study was published last year. Gout takes hold when there are high levels of uric acid in the blood, which then form sharp crystal needles in the joints. When the body's immune system starts to attack those crystals, it leads to significant pain and discomfort. Genetics is important in every stage of that process, the researchers suggest. Particularly, it affects the likelihood of the body's immune system attacking the crystals, and in the way uric acid is transported around the body. Gout can come and go, but there are treatments available – and the authors behind the study think misconceptions can put people off getting those treatments. That's a real problem with cases of the condition rising and rising. "This widespread myth causes shame in people with gout, making some people more likely to suffer in silence and not go and see the doctor to get a preventive drug that lowers urate in the blood and will prevent their pain," said Merriman. On top of giving us a better understanding of the causes of gout, the study gives scientists more options to explore when it comes to treatments, particularly in terms of managing the body's immune response to the build up of uric acid. In fact, existing drugs could be repurposed for this job. There are some limitations to the study: the majority of the data was from people of European ancestry, and some records relied on the self-reporting of gout rather than a clinical diagnosis. Nevertheless, it gives us a much better sense of a health problem that's been afflicting people for centuries. "We hope that, in time, better and more accessible treatments will become available with the new targets we identified," said Merriman. "Gout deserves more health spend resource and greater prioritization in the health system." The research has been published in Nature Genetics. An earlier version of this article was published in November 2024. Identifying Chemicals in Our Environment Could Help Medicines Work Better How Well Is Your Gut Working? There's a Grossly Simple Way to Check. A Shocking Number Still Don't Know The Risk of Taking Aspirin Each Day
