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.”

Of the many medicines that we consume on a day to day basis, we are not aware of how gradually they are actually making our health worse. One medicine that is common in many households, especially in India households, as points Dr Obaidur Rahman, Ortho and Sports Surgeon is pantoprazole, popularly sold under the name PAN40, PAN Top or PAN D. These medicines are used to treat and relieve symptoms of heartburn, which is a common symptom of acid reflux and GERD.

"A patient came to me, he was an 80-year-old male. He has a habit of taking this tablet regularly, and because of that he suffered an osteoporotic fracture. This means he fell while walking and fractured," points out Dr Rahman.

He says that many people, old and young, alike, have a habit of taking this pill like a multivitamin. In fact, they have substituted with pro and prebiotics and assume that it helps with digestion. However, he points out, "If you take this regularly, your gastric mucosa stops responding against proper acid production. And there is also an impairment in digestion."

He says that in clinical practice, it has been found that this common household medicine, which is often procured as over-the-counter or OTC medicine, meaning, without prescription, could cause Vitamin B12 deficiency, and magnesium deficiency.

What Does The Science Say About Pantoprazole Use?

As per a 2023 study published in the journal BioMed Research International, pantoprazole cause bone loss, which could be prevented by adding octreotide.

The study analyzed the serum levels of calcium, phosphorus, and ALP before starting the treatment, and at the end of 12 weeks of treatment on pantoprazole, significant decline in calcium levels were noticed, as compared with other groups. The study also found that octreotide significantly prevented the effect of pantoprazole on the serum levels of calcium and ALP.

The study also found that pantoprazole decreased femoral bone density and femoral BMAD. Besides this, another decrease was found in the femoral bone weight and volume as well as the trabecular volume.

Another study from 2021, published in the European Journal of Clinical Pharmacology pointed out that 12 patients had major fractures and showed changes in serum Mg2+ and Ca2+ levels over a period of 1 month as well as the animal study also showed ionic imbalance over 8-week treatment with pantoprazole. Bone density measured for the patient at the end of the 1-month treatment was found to be in the osteopenic category, together with the animal study which showed a decrease in femur bone strength for the animal treated with pantoprazole over a period of 8 weeks.

Are There Any Safer Alternatives To Pantoprazole?

Pantoprazole contain Proton Pump Inhibitor (PPI), and prokinetic, long-term use of PPIs is associated with the risk of bone fracture. However, alternatives like Histamine H2-receptor antagonists or H2 blockers are effective alternative that do not cause bone loss, notes a 2020 study published in journal Bone, titled Comparative analysis of the risk of osteoporotic fractures with proton pump inhibitor use and histamine-2 receptor antagonist therapy in elderly women: A nationwide population-based nested case-control study.

The safer alternatives are:

Famotidine (Pepcid, Calmicid, Fluxid, Mylanta AR) is a potent H2 blocker used to manage acidity and heartburn. Studies show that famotidine is not thought to raise the risk of osteoporosis.

Other options: Ranitidine (Zantac - where available, as it was withdrawn in some markets due to safety concerns) and Nizatidine are other H2 blockers.

Note: Health & Me do not encourage discontinuance of any prescribed medicine by a doctor. Before making any change in your medicine schedule, please speak to your doctor/GP.

This flu season could be brutal, say the early clues that scientists have gathered. This comes as the world already struggles keeping up with the new variants of COVID, however, the COVID rates in the US appears to be low. Though researchers are expecting the virus to circulate more widely in the coming months as people gather for holidays.

This is also the time for common cold. Dr William Schaffner, an infectious disease specialist at Vanderbilt University Medical Center tells the New York Times that if you feel ill, but your symptoms remain only above the neck, that is, a stuffy nose, a sore throat, then it could just be a common cold.

However, if the symptoms lead to hacking cough, and down the neck, which makes your muscles ache and body tired, that it could be a flu or COVID. Due to the similarities in the symptoms, even infectious disease specialists also struggle to tell the difference.

Symptoms To Take A Note Of

COVID

How it begins: Initially, symptoms of COVID can mimic flu-like symptoms

What are the primary symptoms of COVID?

• Loss of taste
• Loss of smell
• Sore throat: the new variants are also causing razor-sharp pain in the throat
• Diarrhea or stomach upset

The biggest difference here is the dry and persistent coughing, which when you have a cold will not be dry in nature.

How it impacts? The COVID may vary from mild to severe

Since the pandemic, Covid has blurred the lines between seasonal infections. Current strains can trigger flu-like fatigue, fever, and cough. But the loss of taste or smell and digestive issues are stronger indicators of Covid.

For confirming COVID, test is the only key. There are now at-home tests available online and at drugstores too. An at-home test could detect both, a flu and COVID.

Common Colds

How it begins: The symptoms of common cold starts gradually.

What are the primary symptoms of Common Cold?

• Stuffy or runny nose
• Sore throat, but not razor-blade like pain
• You may feel pressure in the ears

Here, the biggest difference is also in cough, which is often mucus-filled and chesty. Whereas in COVID, the cough is dry.

How it impacts? While it is annoying in the beginning, especially due to the blocked nose and ears, the congestion clears up overtime and usually doesn’t stop daily activities.

Colds typically start with a tickle in the throat or pressure in the ears before progressing to nasal congestion and cough. Most people can carry on with their routines despite the discomfort.

Flu

How it starts? In many cases, the flu may catch you out of the blues, many describe the onset as sudden.

What are the primary symptoms of Flu?

• Fever
• Chills
• Muscle aches
• Exhaustion

While the cough here is also dry in nature, which may make one get confused with COVID, there is no razor-blade like symptom, which can be used as a marker to differentiate.

How does it impact? Flu often requires bed rest.

Unlike a cold, flu can leave you feeling completely wiped out. Body aches and high fever are distinguishing features, and recovery often takes several days of rest.

An antibiotic routinely used for acne has been linked to a lower likelihood of developing schizophrenia. A new investigation from the University of Edinburgh found that adolescents receiving mental health care who were given doxycycline had a reduced chance of being diagnosed with schizophrenia as adults, compared with those who were prescribed other antibiotics.

Although these early findings cannot confirm that doxycycline prevents schizophrenia, the researchers suggest that its influence on immune activity, inflammation, and programmed cell death may help protect the brain from changes associated with the disorder. “Because this research relies on observational records, it cannot prove that doxycycline directly lowers the risk of schizophrenia, so more studies are needed,” the authors explain.

“Even so, the results raise the possibility that doxycycline could play a role in lowering schizophrenia risk among young psychiatric patients and open new avenues for prevention-focused mental health research.”

What Is Schizophrenia?

Schizophrenia is a severe psychiatric disorder that affects about 23 million people worldwide, with most cases identified during late adolescence or early adulthood. The illness can appear suddenly and may bring on psychosis. Typical symptoms include ongoing delusions, hallucinations, disorganized thoughts, restlessness, or withdrawal from others. According to the World Health Organization (WHO), more than two out of three people experiencing psychosis lack access to specialized mental health services.

What Is Doxycycline?

Doxycycline is a broad-acting antibiotic commonly given to teenagers for acne. Some recent research suggests it may also offer certain protective effects for the brain, as it is able to cross the blood-brain barrier. In 2024, Science Alert reported on a Danish study showing that this brain-penetrating antibiotic was associated with a lower likelihood of schizophrenia patients later receiving disability benefits, hinting at how the illness might affect their daily functioning.

To explore this further, child and adolescent psychiatrist Ian Kelleher from the University of Edinburgh led a large international team in reviewing data from more than 56,000 people born in Finland between 1987 and 1997. All had used mental health services in their youth and had been prescribed antibiotics during that time.

The analysis showed that those given doxycycline had a 30 to 35 percent lower chance of developing schizophrenia over the following decade, compared with individuals who had taken other antibiotics. The risk dropped from 2.1 percent in the non-doxycycline group to 1.4 percent in those who used doxycycline.

Doxycycline Linked To A Drop in Schizophrenia Risk

The research team found that taking doxycycline was linked to a 30 to 35 percent reduction in schizophrenia diagnoses over ten years. One theory is that doxycycline may clear an infectious agent that contributes to schizophrenia. Another possibility is that it directly affects inflammation and nerve pathways inside the brain.

Other antibiotics offer hints as well. A 2019 study using stem cells from people with schizophrenia and healthy volunteers showed that minocycline can reduce excessive loss of synapses, a process thought to play a part in schizophrenia. Since both minocycline and doxycycline belong to the tetracycline family, they may share similar properties. Using Finland’s health records, Kelleher’s team noted that nearly half of all psychotic disorders in the population occurred in individuals who had visited adolescent psychiatric services.

The researchers believe this stage of life may offer a valuable period for early intervention, where medications like doxycycline might help reduce the chance of the illness progressing. “Nearly half of the people who develop schizophrenia had earlier contact with child and adolescent mental health services for other issues,” Kelleher says.

“At the moment, we do not have any proven ways to lower the risk of schizophrenia in these young people, which makes these findings encouraging.”

Does Doxycycline Have Side Effects?

Doxycycline is available in two forms, doxycycline monohydrate and doxycycline hyclate, though both tend to cause similar reactions. This list does not include every possible side effect, so consult your medical provider if you are unsure about anything you notice while taking the medication.

Mild doxycycline side effects include:

• Nausea or vomiting
• Diarrhea
• Sensitivity to sunlight
• Sore throat or difficulty swallowing
• Vaginal yeast infection
• Itchy skin and rash (urticaria)

Rare but serious doxycycline side effects include:

• Ulcers in the esophagus
• Severe skin reactions
• Liver problems
• Tooth discoloration in children
• Clostridioides difficile (C. diff) diarrhea
• Intracranial hypertension (increased pressure around the brain)
• Low blood cell counts

Always speak with your healthcare professional before starting or stopping any medication.