ALS - Part 6 - Standard Medical Practice

  Typical Information Given to Newly Diagnosed Patients

Typical information given ALS patients does not encourage hope.  Anecdotally, one client said that no information on supplements or life style that might slow the progression of the ALS symptoms was given to him.  This was hopefully atypical treatment.  However, two studies looked at the patient’s perception of their experience of being told that they had ALS.  “Patients reported lack of empathy, insufficient explanation of the diagnosis and the course of the illness, and lack of information on where to get help” (Miller, Jackson and Kasarskis).

Although genomic research has been abundantly funded in the past decade, the result of this research has been limited but promising.  The goal of  researchers in ALS genomic sequencing is to find the genes that are involved in developing ALS and then develop treatments based on that knowledge (Al-Chalabi).  For example, the mutation of a gene named SOD-1 (copper/zinc  superoxide dismutase) is thought to be responsible for 2 to 7% of ALS cases. Discovery of a gene called TDP-43 (producing a protein TDP-43 or Tar DNA-Binding protein) which impacts a more common form of the disease has been found in the more recent past (Al-Chalabi).  Determining how the gene mutation causes disease has been a goal of the ALS researchers along with using that information to mitigate or halt the disease process.

A recent development has been the creation of genetically engineered mice and rats that can reveal how TDP-43 may impact the development of ALS (Petrucelli).  Having animal models will allow researchers to test various hypothesis as well as testing drugs to determine potential effectiveness. In healthy people, TDP-43 resides in the neuron’s nucleus.  In people with ALS, the protein accumulates in the cytoplasm and forms inclusions (abnormal structures) (Petrucelli).  The researchers now have to resolve if the aggregated proteins are toxic, just a by-product, or if the cells are using the formation as a protective mechanism to try to sequester a toxin (Petrucelli).  The research on any genetic mutation, even though the gene is identified, still needs to reveal its secrets in how the mutation causes disease.

  Result of Standard Medical Practice

A goal in using stem cells would be to make new motor neurons to replace ones lost in ALS.  Embryonic cells have been shown to be able to make motor neurons.  Due to the ethics involved with using embryonic cells, a new advance in stem cell research has been welcomed.  Adult skin cells are now able
to be tricked into going back to the embryonic state (Svendsen). These cells are called“induced pluripotent stem cells” or IPS. Neurons are ‘terminally differentiated cells’ which means they do not replicate.  This makes it difficult to produce enough motor neurons to study (Carrasco and Maniatis). Researchers now use motor neurons that have been produced from stem cells. Motor neurons are very long in humans since they start in the Central Nervous System and end at each muscle. This need for length increases the difficulty in
using use stem cells as replacements in patients (Svendsen).

Use of the patient’s own skin cells in gene therapy would limit rejection issues.  However, if the cells carry the ALS defect, the generated cells may not function as desired.  The best news about the development of IPS is that deriving stem cells from an individual ALS patient may allow screening of new drugs to see if they are effective for that particular patient (Svendsen). 

Alternatively, since motor neurons are so long and therefore hard to replace, it would be easier to replace the astrocytes, which are cells that reside close to the motor neurons (Svendsen).  Astrocytes are also found to be dysfunctional in people with ALS, and it is possible that replacement of astrocytes would slow the death of the motor neurons (Svendsen).

The result of standard medical treatment is an average life expectancy of two to five years after diagnosis and extreme debilitation prior to death usually of respiratory failure.  This is a grim picture.

This paper is in honor of Warren Schaeffer, an exceptional
person, adventurous being and a first-class gentleman.