Direct neuronal degeneration is brought on by Krabbe disease: study

Published

4 years ago

July 6, 2022

India

Direct neuronal degeneration is brought on by Krabbe disease: study

A recent study found that the gene mutation underlying Krabbe disease directly causes neuronal degeneration, independent of how it affects other cell types. This new mode of action for the mutated gene provides a clearer view of the illness process and could aid in the creation of new treatments.

Galactosylceramidase (GALC) gene mutations are the primary cause of the uncommon autosomal recessive neurological ailment known as Krabbe disease. The lysosomes contain the GALC enzyme, and its lack causes the lipid psychosine to accumulate. Cell membrane instability, degeneration, and cell death are brought on by the buildup of psychosine in the brain and other areas of the body.

One of the main pathological characteristics of Krabbe disease is the loss of myelin insulation around the nerves. Oligodendrocytes, which produce myelin, have naturally been considered to be the disease’s initiators, with the degeneration of neurons acting as a later effect of this myelin loss.

Other, more recent research has suggested that neurons may be impacted independently, but it has been challenging to test that theory because GALC is widely expressed in the brain and its loss due to disease affects all cell types. To get around this obstacle, the authors developed a mouse model in which GALC expression was only suppressed in neurons while the regular gene was still active elsewhere.

Researchers discovered that psychosine built up in neurons, causing irregularly shaped lysosomes, enlarged axons, and an increase in neuronal mortality, as well as neuroinflammation and deficiencies in mice’s motor function and coordination. No oligodendrocytes were lost, but the absence of neuronal GALC expression did result in a decrease in myelination, perhaps as a result of toxic effects on myelin sheaths from the accumulating psychosine.

For the first time, according to Shin’s findings, galactosylceramidase production in neurons is necessary to preserve and safeguard neuronal function, regardless of how it may affect oligodendrocytes that produce myelin. These findings imply that the lack of the enzyme in neurons may directly contribute to the pathogenesis of Krabbe disease, and that Krabbe disease treatments may require to target the lack of galactosylceramidase production in neurons.

Adding, Shin “Our research is the first effort to specifically examine the neuronal function of the Krabbe disease gene galactosylceramidase in a preclinical live animal model. We discovered an intrinsic neuronal role for this enzyme in creating a neuron-specific mutant of Krabbe disease. This finding suggests that, independent of myelin and other brain cell types, neuronal galactosylceramidase has a primary role in maintaining neuronal homeostasis, and that galactosylceramidase-depleted neurons may be the main cause of Krabbe disease. Galactosylceramidase supplementation to neurons would probably increase the effectiveness of therapeutic approaches for Krabbe illness since the protective role of neuronal galactosylceramidase suggests a new function unrelated to its conventional role in myelination.”

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Amitabh Bachchan: The Heartbreaking Anxiety of Bollywood’s Greatest Icon

Published

6 days ago

June 19, 2026

Digital Post

Amitabh Bachchan: Candid Self-Doubt Confession

Even after five decades of cinematic dominance, Amitabh Bachchan still faces the quiet terrors of the midnight hour. The man who epitomised alpha-masculinity for generations of moviegoers recently made an unexpected confession that shocked his millions of admirers. He continues to have restless nights, locked in a vicious circle of intense self-doubt and crushing work stress.

This revelation is a huge wake-up call for anyone who thinks of him as an invincible acting colossus. It demonstrates that the heavy weight of perfectionism never fully fades, no matter how much celebrity you achieve.

The Haunting Midnight Echoes of Perfectionism

Imagine being a living legend and lying awake at 3 a.m. wondering if your previous performance was a complete failure. Bachchan admitted that he always repeats his sequences in his memory, haunted by the terrible feeling that they “could have been done better.”

This tremendous emotional sensitivity reveals a side of the megastar that the public has rarely seen. Onscreen, we witness the towering demeanour, booming baritone voice, and perfect delivery. But, behind closed doors, he suffers from the same paralysing fear that ordinary people face on a daily basis in the workplace.

Why the Deepest Passion Breeds Internal Chaos

You might ask why a man who has won every major film award is so concerned about delivering a single sentence. True genius is rarely characterised by serenity of mind. For Bachchan, acting is more than a job; it is a sacred, consuming fire that demands flawless excellence every time.

When you care so deeply about your craft, every creative endeavour feels like a high-stakes bet on your entire legacy. This tremendous artistic drive is a two-edged blade that produces amazing art while completely destroying your mental serenity.

The Heavy Price of an Enduring Legacy

Living under the microscope of the public eye for fifty years has a catastrophic psychological impact. Every move Amitabh Bachchan makes is immediately analysed, criticised, or worshipped by countless millions of people.

That amount of tremendous expectation establishes a distinct, invisible prison of performance anxiety. The dreadful anxiety of disappointing his big audience keeps his thoughts racing long after the cameras stop rolling. It turns out that the view from the very top of the mountain is extremely lonely and filled with perpetual emotional danger.

Normalizing the Silent Struggle with Mental Health

Bachchan has done an incredible amount to raise worldwide mental health awareness by publicly exposing his personal struggles with work stress. He has effectively removed the heavy veil of shame that typically surrounds the topic of anxiety, particularly among older generations.

If the ultimate “Angry Young Man” of Indian cinema can freely acknowledge to feeling inadequate, then everyone else has the right to be human as well. It is a welcome reminder that being overburdened by your commitments does not imply weakness.

The Relentless Creative Hunger That Never Sleeps

Finally, this severe self-doubt is the secret fuel that drives Amitabh Bachchan to labour continuously at an age when most people have retired. It’s a curious paradox: his severe inner agony serves as the driving reason behind his legendary longevity.

He refuses to rest on his past accomplishments or rely on his immense celebrity to get by. Every sleepless night reveals a man with the raw, eager heart of a novice. He remains gloriously, devastatingly uneasy about his work, which is precisely what makes him an everlasting force in film.

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