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 Fan Faints After Hours of Torturous Waiting

Published

1 week ago

May 25, 2026

Digital Post

Amitabh Bachchan: Shocking Fan Incident Outside Jalsa

Amitabh Bachchan Fan Faints After Hours of Torturous Waiting

The weekly Sunday rite outside the renowned gates of Jalsa is nothing short of profoundly holy. For decades, thousands of deeply moved admirers have gathered like clockwork, hoping for a single glimpse of the iconic megastar.

Yesterday evening, that fierce commitment took a scary and sad turn. A middle-aged guy, who had been standing patiently in the scorching midday sun for more than four hours, collapsed unexpectedly.

He collapsed totally into profound sleep, landing directly on the harsh, unforgiving asphalt road. The happy, chanting crowd fell silent in an instant as reality hit in.

A Heartbreaking Moment of Desperation

According to eyewitnesses, this enthusiast travelled across various states for a two-minute glimpse of his idol. His quivering hands clutched a framed vintage photograph of the superstar.

As the searing midday heat reached its zenith, acute dehydration and utter physical fatigue overtook his body. His feeble knees bowed under the crushing weight of his never-ending, frantic wait.

He fell face first to the ground before anyone could react or grab him. The enormous crowd’s collective, frightened gasp boomed over Juhu’s normally peaceful suburban streets.

Sudden Chaos Outside Jalsa’s Gates

Within seconds, total fear spread among the observers. Fellow supporters quickly dropped their homemade banners and posters, coming to the fallen man’s rescue. Someone desperately sprayed cold water upon his pale, sweating face.

The large security crew stationed outside Amitabh Bachchan’s home acted quickly. They were able to remove the rising, panicked crowd, allowing the choking sufferer to breathe easier.

An emergency ambulance was dispatched immediately, while local volunteers attempted to revive him. In a few startling moments, the atmosphere went from exhilarating exhilaration to total horror.

The Relentless Sunday Evening Madness

Every Sunday evening, the veteran actor gracefully goes onto a high podium at his grand gates. It is a renowned custom that has completely defined Bollywood fan culture over generations.

Passionate admirers will miss meals, risk heavy monsoons, and suffer harsh summer heat waves only to see him wave. It is a profound, emotional bond that defies all reasonable logic.

For this heartbreakingly loyal admirer, the powerful emotional rush combined with severe physical tiredness proved to be a highly perilous, almost lethal combination on the boiling, sweltering concrete.

Security Personnel Scramble to Prevent Tragedy

Local police officers responded promptly to the chaotic scene, attempting to manage the emotionally charged throng. Medical staff administered quick, vital first aid on the scene, examining his critically weak and decreasing pulse.

The comatose man was gingerly put onto a canvas stretcher, still clutching his prized, sweat-soaked image of the actor. He was sent to a local hospital for emergency treatment.

On-duty medics eventually confirmed that he had severe heatstroke and acute, life-threatening dehydration. Fortunately, his medical condition improved after he received repeated IV infusions and intensive, appropriate care.

A Stark Warning for Star-Worshippers

This terrible, tragic episode has generated a heated, much-needed debate about the extreme limits of celebrity worship in India. Blind passion should never result in the death of an innocent person.

Jalsa is an undisputed historical monument to love, but yesterday it served as a grim, sobering lesson. Extreme physical endurance for a brief moment can easily result in a catastrophic medical tragedy.

As thousands of passionate individuals continue to flow to Mumbai every day, the fine line between beautiful appreciation and life-threatening devotion becomes increasingly, dangerously blurred for these fragile worshippers.

Terrifying Boundaries of Human Obsession

The burning passion that motivates these ordinary folks to risk their own health is both wonderful and scary. It emphasises the megastar’s immense, godlike influence over millions of hearts.

While the legendary actor continues to express love to his devoted fans, this dangerous occurrence demonstrates that safety should always come first. No fan should have to bleed or faint on the street in order to catch a passing shadow.

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