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For over 15 years, Dr Anthony Shum, a pulmonologist at the University of California, San Francisco has been studying a rare genetic disorder called the COPA Syndrome. It stands for coatomer subunit alpha and is a rare, inherited disorder that affects the lungs, joint, and kidney. The National Organization for Rare Disorder also notes that it is a genetic autoimmune disorder that is caused by mutations in the COPA gene. This disease affects families unpredictably—some individuals with the mutation develop severe lung damage early in life, while others remain completely healthy. Now, Shum’s team has discovered a protective genetic variant that may offer new hope for treatment.
Researchers found that some relatives of COPA Syndrome patients stayed healthy despite carrying the same COPA gene mutation that causes the disease. The key difference? These unaffected individuals had a protective version of another gene called HAQ-STING.
When scientists introduced HAQ-STING into diseased lung cells from COPA patients, the cells returned to a balanced state, suggesting that this gene could be used as a therapy.
“We really think HAQ-STING could be a gene therapy tool and a step toward a cure,” said Shum, whose findings were published in the Journal of Experimental Medicine.
Shum’s journey into COPA Syndrome research began in 2011 when he treated a young woman, Letasha, who had severe lung bleeding. Her mother, Betty Towe, mentioned that Letasha’s sister, Kristina, had suffered from similar symptoms. Over the years, Betty had taken both daughters on a four-hour trip to UCSF for treatment. After tracing their family history, Shum discovered that their distant relatives in Texas and Oakland also had lung problems and arthritis. In 2015, Shum, along with scientists from Baylor College of Medicine and Texas Children’s Hospital identified the COPA gene mutation. They realized that it was the common factor behind the illness. However, only some of the 30 individuals with the mutation actually developed symptoms, leaving a major question unanswered.
It was established that it occurs when a mutated COPA gene causes another gene STING to go overdrive. The STING that helps fight infections in COPA patients, remain permanently active, which leads to chronic inflammation that damages the lungs, kidneys, and joints. In 2020, while studying STING’s role in the disease, researchers discovered a key variation: HAQ-STING. This version of STING, present in about one-third of the population, appeared to neutralize the harmful effects of the COPA mutation.
To confirm their theory, the scientists needed both affected and unaffected family members to participate in the testing. Letasha, Kristina and Betty immediately volunteered. The researchers then analyzed DNA samples from 26 COPA patients and their healthy relatives. They also conducted CT scans and blood tests to ensure that unaffected members did not have any hidden symptoms. When the findings were all clear, it was revealed that all the healthy individuals had HAQ-STING, while none of the COPA patients did. This was the first known case of a common gene variant completely protecting against a severe genetic disease.
Encouraged by this discovery, researchers tested HAQ-STING’s effects in a lab setting. They introduced it into diseased lung cells from COPA patients, and the cells returned to normal function.
Shum believes HAQ-STING could lead to game-changing treatments, including:
Before publishing their findings, Shum called Betty with the news—her own HAQ-STING gene had protected her from the disease. He also informed Letasha and Kristina, who were overwhelmed with relief and joy.
“We always believed Dr. Shum would get to the bottom of it,” said Letasha. “This discovery is going to change lives.”
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A new study suggests that drinking sugary drinks can increase anxiety, among other mental issues, in adolescents by 34 percent.
Sugary drinks are known to be more harmful due to their low fiber, protein, or fat, which typically slow down digestion in solid foods. This means liquid sugar gets into your bloodstream very quickly, causing a sudden jump in blood sugar and insulin levels.
Hyper-fast intake of such drinks can also make it hard for your liver to process the sugar, especially the fructose part. n large amounts, fructose turns into fat in your liver. This buildup of fat is linked to metabolic problems that lead to Type 2 diabetes.
Apart from this, a Bournemouth University, UK literature review analyzed people aged between ten and 19 who drank fizzy drinks, colas, sweetened fruit juices, sweetened milk drinks, energy drinks, and sweetened tea or coffee and found multiple links between the beverages and anxiety diagnosis.
The gut-brain axis — the connection between the brain and the gut — may help explain the link between sugary drinks and anxiety. But gut health is influenced by many factors, including diet, stress, and sleep, which are also linked to anxiety.
Overall, the study suggests that cutting back on sugary drinks could help support teenagers’ mental health. While many studies have looked at how reducing sugary drinks improves physical health, more research is needed to see if it also benefits mental health.
READ MORE: Smoking Cannabis Can Lead To Mental Illnesses In Teenagers, Study Finds
The World Health Organization is asking countries across the world to increase taxes on sugary drinks and alcohol to reduce cases of chronic conditions such as Type 2 diabetes, obesity, heart disease and fatty liver.
In a January 13 virtual conference, WHO Director-General Dr Tedros Adhanom Ghebreyesus said: "Health taxes have been shown to reduce consumption of these harmful products, helping to prevent disease and reduce the burden on health systems.
"At the same time, they generate an income stream that governments can use to invest in health, education and social protection."
According to a recent report on sugar-sweetened beverages taxes, at least 116 countries tax sugary drinks, including sodas or carbonated canned drinks, but other high-sugar products, such as 100 per cent fruit juices, sweetened milk drinks and ready-to-drink coffees and teas, escape taxation.
Additionally, another report on alcohol taxes shows that even though 167 countries levy taxes on liquor, wine and beer, alcohol has become more affordable or remained unchanged in price in most countries since 2022, as taxes do not get adjusted for inflation and income growth.
Sugary drinks can feel addictive. If you find yourself hooked, try to slowly reduce how much you drink, just like you would with alcohol or tobacco. It helps to plan ahead for when you usually crave a soda.
You can start by mixing plain sparkling water with an equal amount of fruit juice or soda. Then, week by week, slowly reduce the amount of the sugary drink until you're mostly just drinking sparkling water. If it helps, add a little lemon or lime juice for flavor.
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Participating in ultra-marathons can cause damage to your red blood cells' flexibility and hamper their oxygen-carrying capacity, a study suggests.
A study published in the American Society of Hematology’s journal Blood Red Cells & Iron notes that extreme forms of exercise may harm, rather than support, overall health.
In the case of ultra-marathons, runners experience breakdown of normal red blood cells during races. Over time, their red blood cells become less flexible and potentially reduce their ability to efficiently carry oxygen, nutrients and waste products throughout the body.
Travis Nemkov, associate professor in the department of biochemistry and molecular genetics at the University of Colorado Anschutz and the study’s lead author said of the results: “Participating in events like these can cause general inflammation in the body and damage red blood cells.
“Based on these data, we don’t have guidance as to whether people should or should not participate in these types of events; what we can say is, when they do, that persistent stress is damaging the most abundant cell in the body.”
Red blood cells transport oxygen and waste throughout the body and must be flexible enough to squeeze through small blood vessels. When red blood cells become inflexible or rigid, they lose their ability to deform and navigate through the body's smallest vessels, leading to impaired oxygen delivery, blockage of blood flow, and rapid destruction by the body's filtration system.
This can lead to low hemoglobin and anemia which can pave the way for diseases like Sickle Cell Disease (SCD), thalassemia, hereditary spherocytosis, and, in some cases, the "storage lesion" of blood in transfusion banks.
READ MORE: Ultra Marathoner Sufiya Sufi Runner: The Woman Who Set 5 Guinness World Records
Hemoglobin is the oxygen-carrying protein in red blood cells. Adequate hemoglobin levels are essential for keeping organs and tissues properly supplied with oxygen. Without enough of it, the body begins to struggle to meet its basic energy needs.
Low hemoglobin is usually identified through a blood test. It is most often measured as part of a complete blood count (CBC), which checks different components of the blood, including red and white blood cells and platelets, as per Healthline.
While exact reference ranges can vary slightly between laboratories, healthy adult hemoglobin levels usually fall within the ranges listed below. These values are different for babies, children, and teenagers:
Any reading below these ranges in adults is considered low hemoglobin and suggests that oxygen delivery in the body may be reduced, as per Mayo Clinic.
Low hemoglobin is not always an emergency. In many cases, it develops gradually and can be managed with treatment. That said, very low levels can be dangerous. A hemoglobin level below 5.0 g/dL has been linked to serious complications, including heart failure and even death. Levels under 6.5 g/dL may be considered life-threatening and require urgent medical care.
What Causes Low Hemoglobin?
One of the most common reasons for low hemoglobin is anemia. Anemia occurs when the body does not have enough healthy red blood cells. The most frequent type is iron-deficiency anemia, which develops when the body lacks enough iron to produce hemoglobin.
Other forms of anemia include pernicious anemia, which occurs when the body cannot properly absorb vitamin B12, and hemolytic anemia, where red blood cells are destroyed faster than they are produced.
Low hemoglobin can also be caused by:
Treatment depends entirely on what is causing the low hemoglobin. A healthcare provider will first identify the underlying reason before recommending treatment. Possible treatment options include:
If a long-term illness is responsible, managing that condition becomes the key part of treatment, alongside monitoring hemoglobin levels regularly.
Researchers from Denmark and Australia have discovered a new virus in the gut that can contribute to the development of colorectal cancer in the body, one of the leading causes of death in the world.
Using genetic sequencing, researchers studied the gut bacteria of cancer patients in a large Danish study and found that Bacteroides fragilis, an anaerobic, gram-negative, pleomorphic to rod-shaped bacterium, often carried a bacteriophage — a virus that infects and reproduces inside bacteria.
This allows it to produce a toxin (BFT) in the colon, promoting chronic inflammation, cell proliferation and tumor growth in the region.
People with colorectal cancer were twice as likely to have this bacteriophage in their gut bacteria. The virus also appears to be previously unknown and does not match any recorded type so far.
Although the first finding came from a small group, it was later confirmed in a larger study of 877 people with and without colorectal cancer. The results suggest that viruses hiding inside B. fragilis may play a role in cancer development.
Microbiologist Flemming Damgaard, from Odense University Hospital in Denmark: "It has been a paradox that we repeatedly find the same bacterium in connection with colorectal cancer, while at the same time it is a completely normal part of the gut in healthy people.
"We have discovered a virus that has not previously been described and which appears to be closely linked to the bacteria we find in patients with colorectal cancer."
Colon cancer develops from polyps in the colon or rectum, often taking years to show symptoms. The cancer begins when small growths called polyps form on the inner lining of the colon or rectum. Over time, changes in the DNA of these cells can cause the polyps to become cancerous.
As abnormal cells multiply, they replace healthy cells and eventually form a mass known as a tumor. This process develops slowly, often taking up to ten years for a precancerous polyp to turn into cancer and begin showing symptoms.
The American Cancer Society notes that colorectal cancer impacts around 1.9 million people every year.. In India, it is the fourth most common cancer among both men and women. In 2022, there were 64,863 new cases and 38,367 deaths.
Projections suggest that incidence will continue to rise by 2026, reflecting both lifestyle changes and improved detection.
Colon cancer can be difficult to detect because it often develops without obvious symptoms. According to experts , these are the three things you should do to protect yourself:
1. Timely risk screening
2. Knowing your cancer family history
3. Acting on early symptoms
Colon cancer rarely announces its presence with dramatic symptoms. More often, it whispers — through changes in bowel habits, subtle abdominal discomfort, or unexplained weight loss.
Some of the most commonly missed early signs include:
Persistent changes in bowel habits, especially if they last more than a few days, must be taken seriously. Narrow or ribbon-shaped stools may indicate a tumor partially blocking the colon.
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