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Death of Stephen Hawking Scientist succumbed to incurable neuropathy ALS
- Amyotrophic lateral sclerosis (ALS)
- Death of Stephen Hawking
- Incurable nerve disease
- Genetic factor
Amyotrophic Lateral Sclerosis (ALS): Incurable muscular and nervous disease
Although the muscle and nerve disease amyotrophic lateral sclerosis (ALS) has been known for over 100 years, there is still no cure for it. Now British scientist Stephen Hawking has died from the incurable disease. Researchers recently identified the most common genetic factor of familial ALS.
There is still no cure for the muscle and nerve disease Amyotrophic Lateral Sclerosis (ALS). Now the astrophysicist Stephen Hawking has died of the rare disease. (Image: Zerbor / fotolia.com) Stephen Hawking died of incurable neuropathy
When Stephen Hawking was diagnosed with Amyotrophic Lateral Sclerosis (ALS) in 1963, the doctors predicted that he would have only a few years to live. You should not be right.
Although about half of all ALS patients die within three years of the consequences of the incurable disease, but the British physicist and astrophysicist, who gained world fame thanks to his scientific work, the nerve disease succumbed only now, at the age of 76 years.
For about 50 years, the scientist had to rely on a wheelchair. He also lost the ability to speak in the mid-1980s and has been using a voice computer ever since.
His illness seemed to have been a rare form of ALS that progressed slowly and had no effect on either consciousness or cognitive abilities.
In other patients, the disease is much more dramatic and leads to death within a few years.
Incurable nerve disease
The rare nervous disease Amyotrophic Lateral Sclerosis (ALS) has been known for around 100 years, but many people only know it since the so-called "Ice Bucket Challenge".
Thousands of people around the world poured ice water over their heads to raise money for ALS research.
The neurodegenerative disease, which can lead to violent muscle twitching and severe swallowing problems among other things, leads to the destruction of the motor nerve cells and thus to steadily progressing paralysis.
"Every year about one in two out of 100,000 people get ALS. The disease usually begins between the age of 50 and 70, but rarely affects younger adults. Men get sick more often than women, "writes the German Society of Muscular Diseases (DGM) on their website.
The relatively rare disease is not curable so far. Although ALS became better known in the summer of 2014 with the "Ice Bucket Challenge", treatment remains difficult, especially because the real causes could not yet be identified.
But researchers have now discovered the most common genetic factor of familial ALS.
Interplay of several genetic defects
Scientists from Ulm University have discovered mutations in the KIF5A gene that can trigger the hereditary variant of the neurodegenerative disease amyotrophic lateral sclerosis (ALS).
According to a communication, this is the genetic factor that has so far been most frequently detected in patients, which contributes to the development of ALS.
The study, recently published in the renowned journal "Brain", also supports the assumption that the fatal disease is based on the interaction of several genetic defects.
Illness usually leads to death within a few years
As a rule, the complex and currently incurable neurodegenerative disease causes ALS to die within three to five years after the onset of the disease.
The sporadic variant is differentiated from the hereditary ("familial") form, which accounts for only about ten percent of the diseases. In both cases, the disease is not yet understood exactly.
However, thanks to recent advances in DNA sequencing technology, scientists have been able to identify several genes whose mutation is a predisposition to ALS.
However, these mutations only explain the cause of less than 25 percent of all cases.
Several gene modifications work together
Now, researchers from the Ulm University Department of Neurology (Rehabilitation and University Clinics Ulm) and the University of Umeå Sweden compared the genome of 426 ALS patients who had at least one other diseased relatives with a healthy control group (so-called "total exome sequencing ").
The scientists led by Professor Jochen Weishaupt and Professor Peter Andersen identified three so-called splice site mutations in the C-terminal domain of the KIF5A gene in ALS patients, leading to a loss of function of the gene in question.
In three studied families, the inheritance of the disease was linked to such a mutation over several generations.
In addition, in several patients with familial ALS, the authors found an accumulation of single nucleotide polymorphism (SNP) rs113247976, which also affects the KIF5A gene.
"In six percent of familial ALS patients we were able to detect this polymorphism and again 50 percent of them had at least one mutation in another known ALS gene. This indicates that many genetic defects often interact in disease transmission, "explain Professor Weishaupt and first author Dr. Ing. David Brenner.
Of all the genetic changes found in ALS patients worldwide since 1993, rs113247976 is the most abundant genetic factor contributing to the disease.
Other neurological disorders associated with the affected gene
The KIF5A gene is the blueprint for a protein involved in the transport of substances in the axon of a nerve cell. The study results underscore the importance of intracellular transport processes in ALS disease development.
In addition, other neurological disorders are associated with different changes in the KIF5A gene (hereditary spastic paraplegia, Charcot-Marie-Tooth disease type 2, neonatal intractable myoclonus).
In the future, the newly published findings could contribute to new molecular therapies.
"In summary, this study adds KIF5A to a growing list of genes that cause ALS, and it extends the spectrum of mutations in this gene," emphasizes Professor Albert Ludolph, medical director of Ulm University's Department of Neurology.
The high prevalence of the SNP KIF5A rs113247976 in familial ALS patients also fueled the hypothesis of a combination of different gene defects in a patient. This could also genetically explain some of the sporadic, non-familial ALS cases.
New insights into the causes of ALS
Other researchers have gained important insights into the causes of ALS in recent years.
For example, Australian scientists have found new gene variants that contribute to the disease in many cases.
According to a report published on the ScienceDaily portal, Professor Naomi Wray of the University of Queensland said: "These three new genes open up new research opportunities to understand a complex and debilitating disease that is currently under attack no effective treatment yet. "
The study results of Dutch researchers are also interesting. As the experts from the Utrecht University in the journal "Occupational & Environmental Medicine" reported, apparently also electromagnetic fields ALS trigger. (Ad)