Just so you all know there are a number of great blogs by people with ALS. All have their own unique voice and I appreciate Eric Valor’s writing very much.
His site and blog are as follows: www.Friends4eric.org and www.friends4eric.blogspot.com
I apologize if these links don’t work as I don’t know how to include them in a post ! I’ll ask my Blog coach to help me learn…
Below is a recent post from Eric and a brief profile:
Eric Valor: I was an outdoors person, active in surfing, snowboarding, etc. My career in Information Technology allowed me to travel the world. I was diagnosed with ALS in 2004 and continued working until 2008 when I could no longer control a mouse.
Poor SOD1:
There has been a question whether SOD1 plays a part in sporadic ALS (SALS) as well as familial ALS (FALS), in which one of a large number of inherited defects in the SOD1 gene cause alterations (misfolding) of the SOD1 enzyme which it encodes. A recent study published in PLoS ONE suggests that misfolded SOD1 is present in all cases of ALS, not just in those involving genetic defect. Some previous studies have had similar results while others have not. Apparently this study used a fairly aggressive set of antibodies to detect inclusions (flaws) in the motor neurons which consisted of SOD1. Whether the misfolded SOD1 or the inclusions/aggregates that result are the cause of disease is still being questioned, although disease effects can be seen prior to visible aggregates forming.
Two things about this study I found interesting:
First, the study reported that the inclusions were found mostly in the axon hillock which makes me wonder if this can be related to the slowing of axonal transport which is a very early event in ALS.
Second, if you look at the diagram in the SOD1 link above, you can see that it is a rather tight and highly complicated enzyme to fold. A mutation may make it more difficult or impossible for a lysosome to break down. Lysosomes are rather important cellular components. The subject study indicates that the misfolded SOD1 found in the motor neurons co-localized with lysosomes, suggesting that the lysosomes were choking on the mutant enzymes. Lysosomal dysfunction has already been linked to several diseases, including neurological. It is known that lysosomal function degrades with age, and ALS is an age-related disease (both SALS and FALS begin after decades of otherwise normal life). At least one study is being conducted, attempting to address ALS by means of increasing lysosomal function.
Of course, this assumes a “neurocentric” view of the disease, where the pathogenesis is in the neuron itself. Recent research suggests this may not be the case, and that some upstream event triggers the cascade that leads to distress and death of the motor neurons. It is this “missing link” that continues to confound researchers.
NOTE: ALS is no longer considered an age -related disease due to the shocking number of young people who are contracting ALS. I have a personal theory that as the toxic levels in our environment build up, and our lives continue to be stress filled, some of us are becoming susceptible to autoimmune disorders at increasingly younger ages. SOD1 may play a part in how levels of toxicity manifest as ALS. See “The Autoimmune Epidemic” by Donna Jackson Nakazawa. More Americans-1 in 12- suffer from autoimmune diseases than cancer or heart disease. Environmental triggers have helped to triple disease rates in the last 3 decades.
