Medical breakthrough! Mystery behind multiple sclerosis revealed, as scientists discover cause of disease

New Delhi: Multiple sclerosis (MS), a disease severely affecting the nerves, has lacking a proper cure. Although treatment is effective to an extent, the condition doesn't accompany a cure.

In MS, resulting nerve damage disrupts communication between the brain and the body. The symptoms, severity and duration can vary from person to person.

Some people may be symptom-free for most of their lives, while others can have severe, chronic symptoms that never recede. The underlying cause of the disease was huge question mark – until now.

In what is being called a definite breakthrough, scientists have discovered the possible cause of the disease. This has therefore, cleared the way for new treatments that may bring hope to over 2.5 million people around the world who suffer from the debilitating disorder.

Ahead of MS Awareness Week, which starts today, researchers unveiled a new cellular mechanism – an underlying defect in brain cells – that may cause the disease, and a potential hallmark that may be a target for future treatment of the autoimmune disorder.

"Multiple sclerosis can have a devastating impact on people's lives, affecting mobility, speech, mental ability and more," said Professor Paul Eggleton, of the University of Exeter in the UK.

"So far, all medicine can offer is treatment and therapy for the symptoms - as we do not yet know the precise causes, research has been limited," Eggleton said.

"Our exciting new findings have uncovered a new avenue for researchers to explore. It is a critical step, and in time, we hope it might lead to effective new treatments for MS," he said.

Affecting more women than men, multiple sclerosis victimizes around 2.5 million people around the world. Typically, people are diagnosed in their 20s and 30s.

Although the cause has so far been a mystery, the disease causes the body's own immune system to attack myelin - the fatty "sheaths" that protect nerves in the brain and spinal cord.

This leads to brain damage, a reduction in blood supply and oxygen and the formation of lesions in the body. Symptoms can be wide-ranging, and can include muscle spasms, mobility problems, pain, fatigue, and problems with speech.

Scientists have long suspected that mitochondria, the energy-creating "powerhouse" of the cell, plays a link in causing multiple sclerosis.

The research team was the first to combine clinical and laboratory experiments to explain how mitochondria becomes defective in people with MS.

Using human brain tissue samples, they found that a protein called Rab32 is present in large quantities in the brains of people with MS, but is virtually absent in healthy brain cells.

Where Rab32 is present, the team discovered that a part of the cell that stores calcium (endoplasmic reticulum or ER) gets too close to the mitochondria.

The resulting miscommunication with the calcium supply triggers the mitochondria to misbehave, ultimately causing toxicity for brain cells people with MS.

Researchers do not yet know what causes an unwelcome influx of Rab32 but they believe the defect could originate at the base of the ER organelle.

The finding will enable scientists to search for effective treatments that target Rab32 and embark on determining whether there are other proteins that may pay a role in triggering MS.

The study was published in the Journal of Neuroinflammation.

(With PTI inputs)