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.”

It is difficult to determine emotions because of the neurological differences, the surrounding in childhood, the psychological ways of survival, and absence of emotional training.

Alexithymia or "emotional blindness" is the neuropsychological trait associated with severe problems with identification, recognition, and description of the person's emotions. Alexithymia is not a psychiatric disease but a personality trait.

It is characterized by the inability to identify and distinguish emotions and body sensations, difficulty of finding the words to express feelings, inability to understand facial expression and body language of another person and emotional detachment during stressful situations.

It is diagnosed in people with autism spectrum disorder, depressive disorder, generalized anxiety disorder and after traumatic brain injuries. It can be inherited or acquired as a result of childhood trauma, abuse or neurological damage.

The Brain Science Behind Alexithymia

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The cause of alexithymia is the brain wiring and neurological differences. Therefore, there is impaired interception, which is the inability of the brain to recognize its own physical sensations. Also, an unusual structure of the brain regions like amygdala and insula, that regulate emotions, makes difficult to decode emotional signals.

Early childhood environment and emotional competence must be developed in childhood, because, without that, there can be emotional neglect and emotional vocabulary deficiency. Due to the inability to interpret emotional data, the person misses the compass that directs decisions and self-calming. This leads to emotional outburst, panic, hyperarousal, social and psychological consequences.

How Alexithymia Differs From Emotional Numbness

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Emotional numbness is the transient psychological state caused by acute trauma, deep grief or burnout.

The lack of emotional intelligence is the lack of social and emotional competence, when the person feels his emotions correctly, but he cannot control temper, lacks empathy, makes inappropriate social decisions or do not know what kind of effect his behaviour causes on the room.

But alexithymia is different since it is long-term personality trait and the person is unaware of the particular emotion.

In terms of neurodevelopment, the insular cortex and the anterior cingulate cortex (ACC) are the structural core of the brain's salience network. They work as a translator, transforming chaotic physical sensations into recognizable emotional experience.

Although there isn't any cure for alexithymia, one can improve his emotional awareness through certain measures. Interoceptive training where individuals are taught how to associate physical body sensations (such as tightness in the chest) with particular emotions (such as stress).

The use of emotion wheel or list of emotional words to bridge the link between vague physical sensation and precise description. Mindfulness, which involves observing oneself without judgment or without trying to suppress those internal feelings right away. And it is always good to seek professional help from a psychologist or a counselor.

By Dr. Arun Shah, Director - Neurosciences, Sir H.N. Reliance Foundation Hospital

Urine leakage after pregnancy is a common occurrence in many women. It is considered a normal part of motherhood. However, it doesn't have to be. Urine leakage can occur after childbirth, but persistent symptoms should not be ignored or tolerated just because you feel that it is not a big deal. It will be imperative for women to consult a pelvic health physiotherapist to examine the pelvic floor and guide women with the help of personalised rehabilitation for improving bladder control and recovering quickly.

Pregnancy and childbirth lead to changes in a woman's body. However, there can also be an impact on the muscles and tissues that support the bladder, uterus, and bowel. Hence, many women can experience urine leakage while coughing, sneezing, laughing, exercising, or lifting their baby after delivery. Vaginal delivery, prolonged labour, multiple pregnancies, a larger baby, excess weight, and chronic constipation can also cause pressure on the pelvic floor. So, the pelvic floor is a group of muscles that supports the pelvic organs and also contributes to bladder and bowel control.

During pregnancy, these muscles carry load, and childbirth can further stretch or affect their strength and even coordination. Hence, stress urinary incontinence is seen in women post-pregnancy, wherein the urine leaks during activities that increase pressure inside the abdomen. Some women may experience urinary urgency, difficulty controlling urine, pelvic heaviness, or discomfort during physical activity. Even signs such as vaginal pressure and heaviness, urinary leakage during exercise, or difficulty controlling gas can also indicate pelvic floor dysfunction.

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Why Pelvic Floor Recovery Is More Than Just Kegel Exercises

Pelvic floor recovery is more than just doing Kegel exercises: Pelvic floor muscle exercises, commonly known as Kegels, will help to enhance muscle strength and bladder control if done as recommended by the expert. However, not everyone will need the same type or intensity of pelvic floor exercise. Some women tend to have weak pelvic floor muscles, while others may have muscles that are poorly coordinated. So, a pelvic health physiotherapist will help to assess pelvic floor strength, relaxation, coordination, breathing patterns, posture, and abdominal muscle function.

The expert will also help women to understand how the pelvic floor responds to activities such as coughing, lifting, or exercise. The aim will be to have a stronger pelvic floor contract and relax muscles when the body needs it. Breathing and pressure management within the abdomen will also be crucial for women during exercise and doing daily activities. Women may need guidance before returning to running, jumping, gym workouts, or other high-impact activities. Recovery should also be gradual.

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What Women Can Do To Support Pelvic Floor Health

What women should know: It will be important for women to maintain an optimum weight, exercise daily, quit smoking, avoid constipation by having fiber in the diet and staying hydrated. Quit smoking, use appropriate lifting techniques to reduce unnecessary strain on the pelvic floor, and don’t hold urine for a long time. Women who opted for a Caesarean section should also ensure they prevent pelvic problems.

Pregnancy itself causes pressure on the pelvic floor, so pelvic floor rehabilitation can be recommended for women with a C-section. Motherhood should not mean silently living with bladder problems. So, pelvic floor rehabilitation can improve bladder control and confidence in women.

Standing up suddenly from your bed, sofa or chair can sometimes cause a brief “head rush”, you may feel light-headed, notice your vision dimming, feel weak or even slightly unsteady. While this can feel alarming, there is a simple physiological explanation for why it happens.

When you stand up, gravity causes some of your blood to temporarily move towards your legs and abdomen. This reduces the amount of blood returning to the heart. Within seconds, the autonomic nervous system usually steps in by tightening the blood vessels and adjusting the heart rate to maintain blood pressure and ensure enough blood reaches the brain.

When A Sudden Drop In Blood Pressure Becomes A Concern

A brief drop in blood pressure during this transition can be normal. However, if the drop is too significant or the body is unable to compensate properly, it can lead to dizziness, blurred vision, weakness and, in some cases, fainting. Orthostatic hypotension is clinically defined as a sustained fall in systolic blood pressure of at least 20 mmHg or diastolic blood pressure of at least 10 mmHg within three minutes of standing.

Several factors can contribute to this, including dehydration, heat, prolonged inactivity, blood loss and medications that lower blood pressure. Recurrent episodes can also be linked to problems with the autonomic nervous system, including autonomic involvement in Parkinson’s disease and other neurodegenerative disorders.

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How To Prevent The Head Rush And When To Seek Help

One simple precaution is to avoid changing positions too quickly, especially after lying down for several hours. Sitting on the edge of the bed for a few moments before standing gives the cardiovascular system time to adjust. Moving your feet or tightening your leg muscles before getting up may also help improve blood flow back to the heart. If you start feeling dizzy, it is safer to sit or lie down rather than trying to walk through it.

An occasional, very brief episode may simply be the body’s normal response to a sudden change in posture. However, frequent episodes, fainting, falls, palpitations or persistent dizziness should not be ignored and warrant medical assessment, particularly in older adults or people taking multiple medications.

Dr Sachin Adukia Sr Consultant M.B.B.S., MD (General Medicine), DNB (Neurology), LH Hiranandani Hospital