ALS Research Emerges From The Darkness

2010-12-13 | |
Last updated: 2019-11-06

It is usually safe to say that a disease is not well understood when the statistics associated with the disease vary considerably. Such is the case for ALS or Motor Neuron Disease (MND) as it is otherwise known. In searching for the disease statistics on the web, it is possible to find numbers ranging from 1 in 1000 people to 1 in 50,000 people developing the disease. Considering the rapid deterioration and subsequent death experienced by most people with the disease, this suggests that ALS is desperately in need of some attention. This year it has received some.

What is ALS?

ALS, Amyotrophic Lateral Sclerosis or Lou Gehrig’s is a degenerative disease of the nerves that control voluntary muscle movement. It affects nerves in the brain and spinal cord causing progressive paralysis. As the disease advances, individuals lose the ability to control movement in the arms, legs and neck. Most of those with ALS die from respiratory failure within 3 to 5 years of having received a diagnosis. There is little in the way of medication for the disease and no cure.

Needless to say, the disease is devastating. At the same time, it is also very costly with those suffering from the disease requiring more than $100000 in equipment to support them in their ongoing disabilities. With the rapid the progression of the disease, individuals lose fundamental abilities rapidly making adaptation a frustrating and costly ongoing exercise both for patients and their families.

How well is ALS understood?

Though the disease has been tracked as a cause of death since 1949, the first important gains in really understanding ALS came with the identification of a genetic defect in 1993. Research found the defect in a gene, now labeled as the SOD1 gene, in those with the hereditary form of the disease. Unfortunately, only about 10% of those with ALS have the hereditary form and roughly 2.5% of people suffering from the condition have the defective SOD1 gene. This left many unknowns for the great majority of those with the disease.

Little important progress was made in getting to know the disease until 2000 when research suggested that ALS was the result of damage to the cell’s power source, the mitochondria. Researchers at the University of Massachusetts confirmed this in 2003. Subsequently, important research in 2008 determined that the clumps of toxic proteins accumulating in nerve cells and causing the damage to the cell were all a result of this defective gene in individuals with the inherited form of the disease. Still however, this research was only applicable to roughly 2.5% of those with ALS.

What has ALS Research Discovered More Recently?

In 2010, however, the advances in ALS research have been considerable.

Research from the University of Massachusetts has linked the long recognized SOD1 gene mutation to roughly 45% of all cases of ALS that are not hereditary. At the same time, researchers from Northwestern University identified a gene, called FUS, which is involved in almost all cases of ALS, including both those that are inherited and those that develop sporadically. As well, researchers from King’s College London and the National Institutes of Health have identified another chromosome also involved in both forms of the disease.

Overall, this means that medical science is gaining understanding for all forms of the disease. It also means that there may finally be enough information about the various causes of the disease for researchers to initiate development of ALS treatments.

ALS Can Involve Bad Cell Power Plants

Although this is promising news, it is by no means the extent to which understanding has been improved. Researchers from the University of California have determined what is happening to the power source in the affected nerve cells. What they have found is that the mutated SOD1 gene reduces the efficiency of the mitochondria and makes it produce reactive free radical chemicals that cause damage to the cell. Eventually, this causes these cells to die. Knowing this is also important because it allows research into ways to slow the rate of damage to begin.

ALS Can Involve Protective Cells With a Short Life Cycle

Finally, research into ALS has also found another cause for the death of these nerve cells controlling muscle movement. Researchers think that the brain and spinal cord maintain a supply of some special immature cells that mature when needed on an ongoing basis throughout life. Their purpose is to repair and replace the protective covering on nerve cells. In ALS, the rate at which these cells grow and reproduce accelerates with the result being that the cells form abnormally and die quickly. By the time a doctor diagnoses ALS, many of these cells have already died off.

This finding is very important because it means that there is something in common between the disease and Multiple Sclerosis (MS). What Johns Hopkins University researchers have found in is that both diseases involve the death of the same supporting cell type. In both cases, the death of these cells results in a loss of repair and maintenance capabilities that ultimately result in the nerve cells dying. The link to MS is important because it means that ALS research may benefit from the gains being made in MS research.


Though none of this research is of any immediate comfort for those now struggling with the condition, progress against any disease must first come with enough seed knowledge. For ALS, this basic knowledge has been a long time coming, but the discovery of important genes and a link to a higher profile disease like MS offers some degree of hope for the future. With the important gains made this year alone, medical research leading to ALS treatment just may have turned an important corner. People with ALS in their families can have hope because new ALS research is finally making progress.

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