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.”

Aging is a significant factor in memory loss and cognitive decline. Now, a team of US researchers has pinpointed a single protein that drives these changes in the brains of the elderly.

In aging mice, higher levels of protein FTL1 weakened connections between brain cells, leading to memory decline.

But when FTL1 was reduced, the brain began to recover. It also rebuilt lost connections and restored memory performance, according to the study, published in Nature Aging.

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"It is truly a reversal of impairments," said Saul Villeda, Associate Director at the University of California - San Francisco's Bakar Aging Research Institute and senior author of the paper. "It's much more than merely delaying or preventing symptoms."

While the research was carried out in aging mice, it holds immense potential for human brain function.

FTL1: A Key Driver Of Brain Aging

In the study, the researchers tracked shifts in genes and proteins in the hippocampus of mice. The FTL1 protein appeared consistently different between young and old animals.

Compared to young mice, the older mice showed higher levels of FTL1. They also had fewer connections between neurons in the hippocampus and performed worse on cognitive tests.

Increasing FTL1 levels in young mice produced brain changes similar to those seen in older mice. The researchers found that this change occurs because of alterations in the way nerve cells produce FTL1 protein.

In older mice, the nerve cells that produced high amounts of FTL1 developed simplified structures, forming short, single extensions instead of the complex, branching networks seen in healthy cells.

Further experiments showed that in older mice, higher levels of the protein slowed cellular metabolism in the hippocampus -- the part of the brain responsible for learning and memory.

However, when researchers treated these cells with a compound that boosts metabolism, the negative effects were prevented.

Also read: This Unique Diet Slows Brain Aging By Over 2 Years, Study Says

A Promise For Future Brain Aging Therapies

Villeda believes these findings could pave the way for treatments that target FTL1 and counter its effects in the brain.

"We're seeing more opportunities to alleviate the worst consequences of old age," he said. "It's a hopeful time to be working on the biology of aging."

Also read: Exercising Could Make Your Brain Younger, Says Doctor

Here's How To Boost Your Brain

• Simple movements like squats, push-ups or resistance band exercises
• Indulging in mentally challenging activities such as puzzles, reading, strategy games
• Learn new skills like any language, or musical instruments
• Better sleep — about 7-9 hours
• Healthy diet — rich in leafy greens, vegetables, berries, nuts, olive oil, whole grains, fish, beans, poultry
• meditation, deep breathing, or yoga
• Avoid smoking, and drinking alcohol.

Cancer treatment has long been thought to be unsuccessful among people of advanced age, and older adults are often left out of clinical decisions.

While they may face more surgical complications, a new study proved that even people aged over 80 can still safely have surgery and be cured. It showed that the overall health of a patient matters more and that age must not be the only criterion to rule out surgery.

Also Read: Brain Aging: This Protein Is Linked to Memory Loss and Cognitive Decline

The study, published in The Lancet Regional Health – Americas, showed that surgery for lung cancer is safe in elderly patients aged 80 and above, especially when the cancer is in an early stage.

Researchers at the Icahn School of Medicine at Mount Sinai and the Mount Sinai Tisch Cancer Center in the US found that they can recover like young cancer patients as well as live longer like them.

“As our population ages, more patients over 80 are being diagnosed with early-stage lung cancer, yet they are often not considered for surgery,” said Raja M. Flores, Chair of the Department of Thoracic Surgery at Mount Sinai Health System.

“Our findings show that when patients are carefully selected based on their overall health, not just their age, they can tolerate surgery well and experience excellent long-term outcomes,” he added.

What Did The Study Find?

The study findings are based on a study of 884 patients with early-stage lung cancer, including 114 people who were age 80 or older.

The researchers examined surgical outcomes and quality of life in patients with early-stage non-small cell lung cancer, comparing those aged 80 and older with younger patients.

The results showed that older patients lived just as long as younger patients after surgery. While some older patients had more complications right after surgery, most patients in both groups felt better over time, and their quality of life improved within a year.

The study noted that early detection in older patients may be key. The researchers called for screening guidelines to include patients who are over 80 years old based on these findings.

Also read: Scientists Link Vaping to 2 Types of Cancer; DNA-Damaging Chemicals to Blame

What Is Lung Cancer?

Lung Cancer is one of the most common and serious types of cancer. It is also the leading cause of cancer-related deaths worldwide, with approximately 2.5 million new cases and 1.8 million deaths reported in 2022.

According to the American Cancer Society, lung cancer mainly occurs in older people. Most people diagnosed with lung cancer are 65 or older; a very small number of people diagnosed are younger than 45.

The average age of people when diagnosed is about 70.

It is also the leading cause of cancer death in the US, accounting for about 1 in 5 of all cancer deaths.

In many cases, there are no symptoms; however, one must look out for these:

• a persistent cough
• coughing up blood
• persistent breathlessness
• unexplained tiredness and weight loss
• an ache or pain when breathing or coughing.

Also read: New AIIMS Study To Probe How PM2.5 Is Surging Lung Cancer Risk In India

The two main types of lung cancers are:

Non-small-cell lung cancer (NSCLC): This is the most common form, making up about 80–85% of all cases. NSCLC includes three subtypes:

• Squamous cell carcinoma
• Adenocarcinoma
• Large-cell carcinoma

Cancer is not just a problem of elderly people anymore. In India, there has been an increased number of cases where individuals under the age of 40 are diagnosed with various forms of cancer. Even if there are fewer cases of this medical condition among younger people, this fact does not change the fact that one-fifth of all cancer patients in India are younger than 40 years.

Breast cancer, colorectal cancer, head and neck cancer, as well as blood cancer, are some types of cancer that become more common at a younger age. Among the most alarming statistics, the incidence of colorectal cancer in people aged 30-40 should be mentioned. Moreover, the fact that breast cancer becomes evident nine years earlier in Indian women in comparison with Western women must also be noted.

What Makes This Problem Increase?

There is a wide variety of factors that contribute to this problem. These are the following:

• Lifestyle changes, such as lack of exercise, unhealthy eating habits, being overweight, and stressful situations
• Alcohol and tobacco consumption
• Pollution in the urban environment
• Problems with early diagnosis due to the negligence of patients
• Low screening rates among the young population

Early detection saves lives. Some warning signs to look out for are:

• Sudden and unexplained weight loss
• Endless fatigue
• Digestion issues
• Breast lumps or any swellings anywhere in the body
• Coughing or trouble swallowing persistently

Why Late-stage Diagnosis Is Even More Serious

Not only does it take time to diagnose cancer cases in young patients due to low suspicions, but these cancers also create an additional burden on people during their prime earning period.

How To Combat This Trend

There needs to be a paradigm shift in our understanding of this problem. First of all, we have to understand that cancer affects patients irrespective of their age, and therefore, when you experience some symptoms of cancer, do visit a doctor to get your condition checked out.

The key is maintaining healthy practices like balanced nutrition, exercising, not smoking, and limiting consumption of alcohol.