• Trevor Bower replied to the topic Another theory! Causes of ALS in the forum ALS News 3 months, 4 weeks ago

    So many ideas are floating around tonight. I was told by a prominent ALS doctor that I didn’t have one of the “S” diseases years ago. He said that was the good news. Years later after going through lots of tests and enrolling me in the Undiagnosed Disease Network I came through without an answer.  I still struggled on. That same doctor this past December told me I have ALS. He said it is a variant of ALS because it doesn’t seem to show up in the tests for  ALS. The more I read the more I’m finding this is not just one disease, it is not just genetic or familial, and it doesn’t seem to fit into a nice little pattern. We talk about associations and possible connection with ALS. It isn’t fitting into a nice geographic association or just genetic, or what we eat or drink, whether we or young or old. The one correlation that has been made is that people that were in the US military are nearly twice as unlucky as the rest of the US population to come down with ALS. Well, that still didn’t get us any closer to the cause or the cure. But it is something to work with, maybe.

    • Trevor, you are exactly right!! Here is my take on it ….It’s a cluster disease 🙂 meaning that many of the diseases that end up causing the muscles to atrophy and lose function get grouped together and called MND or ALS… because so little is known — they manifest similarly. To get an ALS diagnoses, they basically rule out all other possibilities.

      There may be various causes. Genetics is a great example. I have a mutated SOD1 gene as do most of the people in my family (we’ve lost 14 to ALS and 1 cousin currently has ALS). Within the SOD1 mutated gene there multiple mutations and each may look differently as the disease progress but ultimately result in the loss of muscle function and life. Some of the SOD1 mutations are associated with rapidly progressing ALS, while others (Like what I have) are associated with very slow progression, typically limb onset. I suspect that all the mutations associated with ALS are similar and have various ALS paths based on what their mutation does in the body.

      In 1993 a large collaborative group demonstrated that some inherited forms of ALS are caused by mutations.
      SOD1-The genetic change alters an abundant enzyme within cells called copper-zinc superoxide dismutase (cu-zn superoxide dismutase, now called commonly SOD1).
      C9orf Repeat sequence expansion mutations in C9orf72 that lead to neurodegeneration in ALS/FTD display dysfunction of the nucleolus and of R-loop formation. Such dysfunctions can lead to DNA damage.

      From the ALS Association website
      Sporadic ALS
      Nearly all cases of ALS are considered sporadic. This means the disease seems to occur at random with no clearly associated risk factors and no family history of the disease. Although family members of people with sporadic ALS are at an increased risk for the disease, the overall risk is very low and most will not develop ALS.
      Familial (Genetic) ALS
      About 5 to 10 percent of all ALS cases are familial, which means that an individual inherits the disease from a parent. The familial form of ALS usually only requires one parent to carry the disease-causing gene. Mutations in more than a dozen genes have been found to cause familial ALS.
      • About 25 to 40 percent of all familial cases (and a small percentage of sporadic cases) are caused by a defect in the C9ORF72 gene (which makes a protein that is found in motor neurons and nerve cells in the brain). In 2011, scientists found that a defect in the C9ORF72 gene is not only present in a significant subset of individuals with ALS but also in some people with a type of frontotemporal dementia (FTD) that results from atrophy to the brain’s temporal and frontal lobes. This observation provides evidence for genetic ties between these two neurodegenerative disorders.
      • Another 12 to 20 percent of familial cases result from mutations in the SOD1 gene that is involved in production of the enzyme copper-zinc superoxide dismutase 1.
      On June 1, 2021, a team of scientists let by the NIH and the Uniformed Services University announced it had discovered a unique form of genetic ALS that affects children as early as age 4 years. This childhood form of ALS is linked to the gene SPTLC1, that is part of the body’s fat production system, and may be caused by changes in the way the body metabolizes fatty materials called lipids.

      I’m not a doctor, and I’m not in the medical field. My personal thought is that down the road ALS will be sub divided even more and each “type” of ALS will require a different treatment.

      I do know that they suspect (this is in clinical trials) that when a person has ALS they have an elevated protein in their blood. They are trying to determine what level is associated with the beginning of ALS. They are also in clinical trials for a drug called Toferson which targets the protein issue in people with the mutated SOD1 gene.

      What are other’s thoughts?


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