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.

A Breakthrough

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.

Families Who Solved The Mystery

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.

The Domino Effect

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.

Way Ahead

Shum believes HAQ-STING could lead to game-changing treatments, including:

• Prenatal gene therapy for babies diagnosed with COPA Syndrome before birth
• Aerosol delivery of HAQ-STING for adults, directly targeting the lungs

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.”

About 30 to 83.7 million adults in the United States have Obstructive Sleep Apnea (OSA), notes American Lung Association. Roughly 80 per cent of these cases remain undiagnosed. However, now, a simple daily pill, an old drug, could just be the solution.

Scientists in Sweden and other places too, have been studying the anti-seizure medicine sultiame as a treatment for OSA. In their latest Phase II trial, the scientists found that people on sultiame experienced an improvement in their apsea symptoms, and their sleep quality too improved as compared to those taking placebo.

The results points towards the potential of sultiame becoming an effective option for people with sleep apnea, especially those who cannot tolerate continuous positive airway pressure (CPACP) machines. The findings are published in The Lancet, and the researchers noted: "These findings offer perspective for a pharmaceutical approach to treatment of patients with obstructive sleep apnea."

Sleep Apnea Pill: What Is This Condition?

OSA is the most common form of sleep apnea, and it happens when airway muscles physically block a person's breathing during sleep. This could pause the body to wake up enough to start breathing again, only for the cycle to restart throughout the night, anywhere from five to 100 times an hour. This also causes low oxygen levels and disturb people's sleep and, over time, can raise the risk of other long-term health problems, which could include heart diseases and even dementia.

What CPAP machines do is they use air pressure to keep the airways open during sleep. While machines are an effective way, some people have trouble using them long term, which is why some companies use less cumbersome interventions, including medicines.

Read: Harish Rana Case Highlights Why Planning For A Living Will Is Important

Sleep Apnea Pill: What Was It Used For?

Sultimae or sulthiame was first launched in the 1960s by Bayger AG as an anticonvulsant - which means, it was a drug designed to treat epilepsy and prevent seizures by stabilizing nerve cell membranes and reducing abnormal, excessive electrical activity in the brain.

What the drug does is, it inhibits carbonic anhydrase, an enzyme that plays a role in regulating our breathing. Research also suggested that this could help people with sleep apnea by preventing airway collapse. The US-based Apnimed, in collaboration with the Japenese company Shionogi & Co., Ltd., have been looking to develop sultiame as a sleep apnea treatment.

How Well Has The Sleep Apnea Pill Been Tested?

The phase II of the trial involved 298 patients. Of them were untreated, moderate and people with severe sleep apnea. The people were observed for over a 15-week period, of them, half were randomized to a placebo pill to be taken right before bed, while rest were given varying doses of sultiame.

The results showed that people who took sultiame saw a noticeable decrease in apnea symptoms and also witnessed improvements in their sleep quality and daytime sleepiness. People in the highest dose group saw the most improvement, with apnea symptoms being reduced up to 47 per cent.

“It feels like a breakthrough, and we now look forward to larger and longer studies to determine whether the effect is sustained over time and whether the treatment is safe for broader patient groups,” said study researcher Jan Hedner, a senior professor of pulmonary medicine at the University of Gothenburg.

While once considered an old-age disease, experts are now seeing kidney damage in people in their 30s and 40s. The prevalence of CKD in India has jumped significantly, moving from about 11 percent from 2011-17 to over 16 percent from 2018-23 among those aged 15 and above.

Kidneys are remarkably efficient that they can lose a vast majority of their function without causing any pain or noticeable symptoms. By the time physical warning signs such as foot swelling or fatigue appear, the underlying damage has already reached an advanced stage.

What Factors Are Contributing To Kidney Damage In Younger People

• Obesity: Obesity causes kidney disease by forcing the kidneys to overwork (hyperfiltration) to meet the metabolic demands of increased body mass, leading to structural damage. In addition, excess fat causes chronic inflammation, high blood pressure, and insulin resistance, which together damage kidney filters (glomeruli), resulting in protein leakage (albuminuria) and progressive scarring.
• Diabetes And Hypertension: Diabetes damages small blood vessels, causing hypertension (high blood pressure). High blood pressure then accelerate damages to the kidneys' filtering units, called glomeruli, which further worsens blood pressure and kidney function.
• Smoking: It damages the kidneys by constricting blood vessels, reducing blood flow, raising blood pressure, and introducing toxins like cadmium, causing or worsening diabetes-related kidney disease.
• High Salt Intake: Excess salt (sodium) is harmful to the kidneys because it causes the body to retain water, raising blood pressure, which damages the delicate filtering vessels in the kidneys and increases the risk of chronic kidney disease.
Contaminated Water Dehydration: Contaminated water has heavy metals such as lead, arsenic, cadmium, and agrochemicals that directly damage renal tubules of the kidneys. Furthermore, they also trigger chronic inflammation and oxidative stress.

Why Early Screening is Important

• Asymptomatic Nature: CKD often shows no symptoms until the kidneys are severely damaged. Screening (eGFR and urine ACR tests) is the only way to detect early damage.
• Preventive Action And Delayed Progression: Early identification enables managing high-risk factors such as blood pressure and blood sugar, which stops or slows down the progression to kidney failure.
• Reduced Complications & Mortality: Early intervention is associated with a 48 percent drop in major cardiovascular events, reducing the high mortality rate associated with renal dysfunction.
• Cost Management And Quality of Life: Detecting CKD early reduces the burden of disease, allowing patients to avoid dialysis or transplantation and preventing catastrophic medical costs.
• High-Risk Target Groups: Individuals with hypertension, diabetes, obesity, or a family history of kidney disease need to be screened annually to prevent progression

Screenings Options

To catch issues early, the article recommends three standard tests:

• Serum Creatinine: A serum creatinine blood test measures the level of a waste product from muscle metabolism to evaluate kidney function. Healthy kidneys filter creatinine; thus, elevated levels often indicate kidney dysfunction, chronic disease, or acute failure. Normal ranges are typically 0.7–1.3 mg/dL for men and 0.6–1.1 mg/dL for women.
• eGFR (Estimated Glomerular Filtration Rate): Estimated Glomerular Filtration Rate (eGFR) is a blood test that measures how well the kidneys filter waste from the blood, indicating the level of kidney function. A result of 90 or higher is generally normal, while consistently low levels (below 60 for 3+ months) indicate chronic kidney disease or potential failure.
• Urine Albumin Test: The test detects early-stage kidney disease (albuminuria/proteinuria) before significant symptoms appear, allowing for earlier intervention to prevent further kidney damage.

Prevention

• Hydration
• Controlling blood sugar/pressure,
• Maintaining a healthy weight
• No to self-medication
• Control Salt Intake
• Balanced diet:

As people across the globe observe World Kidney Day, experts are sounding the alarm over the dangerous everyday habits that are worsening your kidney function and paving the way for the development of chronic conditions.

Dr Neha Bhandari, Senior Consultant, Pediatric Nephrology, Aakash Healthcare exclusively tells Healthandme: "Kidneys are very crucial in ensuring that the body maintains its internal equilibrium by filtering wastes, fluid regulation, electrolytes regulation, and in the process of assisting in blood pressure regulation as well.

"Nevertheless, a number of general living habits that have developed as part of contemporary everyday activity such as high painkiller use, large intake of processed foods and progressively sedentary lifestyles have the potential of slowly damaging the kidney functions. Since the damage of the kidneys frequently happens without any symptoms, and has no symptoms in severe cases, such simple habits can become a serious problem in the long-term, without any treatment."

Dr A K Jayaraj, MBBS, MS (Gen Surgery), MCH (Urology) at Apollo Spectra Hospital, Chennai also told this publication: "From the painkillers people take to relieve pain to the food they eat and the lifestyle they lead, there are a number of factors that can affect the functioning of these small but powerful organs.

"Focusing on these three factors helps keep these internal filters running smoothly by supporting clear blood flow, steady blood pressure, and balanced energy levels."

Here are the habits you need to keep an eye out for to protect your kidneys:

1. The Hidden Danger of Pain Killers

"Pain killers, such as non-steroidal anti-inflammatory drugs (NSAIDs), are known to constrict the blood vessels that lead to the kidneys. Constricted blood vessels limit the ability of the kidneys to filter blood, and frequent use of painkillers in the long run may lead to scarring or chronic diseases in the kidneys. It is always better to use the lowest

dose possible and look for other alternatives to pain killers, such as physical therapy, bed rest or heat packs."

Moreover, Dr Bhandari added: "In the long run, the continuous intake of these kinds of medicines can cause long-term kidney damage to the person, particularly those who are already predisposed to other conditions like diabetes, high blood pressure, and dehydration or people who already have kidney disease. Overdosing with painkillers may also cause a situation called analgesic nephropathy which involves progressive renal damage and functional weakness of the kidney as a result of constant exposure to the drugs."

2. The Burden of Processed Foods

"What a person eats directly affects how hard their kidneys have to work. Modern processed foods are often a "triple threat" because of their high levels of salt, sugar, and chemical additives.

• "High Salt: Processed meats and canned goods are packed with sodium, which raises blood pressure. Since kidneys are filled with delicate blood vessels, high pressure can wear them out quickly.
• "Preservatives: Many packaged snack foods contain preservatives, which are chemicals used to extend the shelf life of the food product. These chemicals are much more difficult for the kidneys to flush out of the system than natural minerals, leading to a buildup of toxins in the blood. Fresh fruits, vegetables, and grains are much better for the kidneys, as they do not contain preservatives," Dr Jayaraj said.

3. The Importance of Fitness

While doctors around the world note that having an active lifestyle can do wonders for both mental and physical health, Dr Bhandari highlights the dangers of not incorporating a workout in your routine.

She tells Healthandme: "Lack of exercise leads to weight gain, poor metabolic health, insulin resistance, and blood pressure all of which are great risk factors of kidney disease. The immobility also impacts circulation and general cardiovascular health, which in turn indirectly impacts on the effectiveness of the kidney functionality needs as adequate blood flow is needed to make the kidney processes effectively.

"Those who work long hours sitting with little physical activity during the time can gradually be a contributor to the disease conditions, which increases the damage to kidneys without thinking of the side effects of the disease in the long term.

"Indirect contribution can also be made by hydration habits. Most people replaced water with sweet drinks or caffeinated ones or soft drinks, which may lead to metabolic disorders and an overload of the kidney. Proper filtration and aiding in the excretion of toxins and metabolic waste into the body is facilitated by the adequate water intake."

"Weight gain and high blood sugar are the primary causes of kidney failure. Daily exercise, such as a 30-minute walk every day, helps the body regulate blood sugar well and maintain healthy blood pressure at all times. This, in turn, does not overwork the kidneys and allows them to perform at optimal capacity," Dr Jayaraj advised.