3 ms·

You are simply wrong. The mutations described in this article are a sufficient condition to develop ALS, period. That means that if you live long enough, you

You are simply wrong. The mutations described in this article are a sufficient condition to develop ALS, period. That means that if you live long enough, you will get ALS. The fact that there are other, yet-to-be-discovered genes that could also cause ALS is irrelevant for the individuals that are already positive for the SOD1, for example.

carbocation 3y ago
I guess you disagree with my point that having a disease is different from having the risk allele for it, but I stand by that distinction. I specifically addressed timing of onset being important in my original comment, because that matters to the person living with the problem.
- ferfumarma 3y ago
  I agree: the word "disease" necessarily implies signs or symptoms of some kind. But what does that add? The entire point of the article is that the carriers are not symptomatic yet, so where's the confusion?
  - carbocation 3y ago
    > The entire point of the article is that the carriers are not symptomatic yet, so where's the confusion? I don't think there is any confusion. In medicine, the disease begins when the symptoms start. Indeed, it's useful to be able to distinguish being a carrier from having a disease.
    - carbocation 3y ago
      A coda that I would add is that as our ability to detect abnormalities expands thanks to improved diagnostics, what we consider to be a sign of disease will evolve. We can’t translate from DNA to biochemistry for almost any trait except for Lp(a), so I don’t count DNA as being a sign right now. But eventually it could be. That will moot this conversation, because at that point we will all be in agreement. Before cholesterol testing, the sign for FH was a thick layer of lipid particles visible when blood was drawn. As our diagnostics improved, the sign of hypercholesterolemia has been refined to a quantitative value. And each field is trying to accomplish the same.
JPLeRouzic 3y ago
> "That means that if you live long enough, you will get ALS." We don't simply don't know that. There is an incredibly wide spectrum of phenotypes, even for SOD1 mutations (~2 of cases) the life span could be as short as 6 months and as large as 25 years. There are ~120 gene mutations that are incriminated in what scientists call ALS. Each of them has dozens alleles on average. In addition there are associations between ALS and dozens of occupations, and exposure to thousands of substances. The scientists tell of multi-step diseases. You are only right in the sense that we will all die at the end.

carbocation 3y ago

I guess you disagree with my point that having a disease is different from having the risk allele for it, but I stand by that distinction. I specifically addressed timing of onset being important in my original comment, because that matters to the person living with the problem.

ferfumarma 3y ago
I agree: the word "disease" necessarily implies signs or symptoms of some kind. But what does that add? The entire point of the article is that the carriers are not symptomatic yet, so where's the confusion?
- carbocation 3y ago
  > The entire point of the article is that the carriers are not symptomatic yet, so where's the confusion? I don't think there is any confusion. In medicine, the disease begins when the symptoms start. Indeed, it's useful to be able to distinguish being a carrier from having a disease.
  - carbocation 3y ago
    A coda that I would add is that as our ability to detect abnormalities expands thanks to improved diagnostics, what we consider to be a sign of disease will evolve. We can’t translate from DNA to biochemistry for almost any trait except for Lp(a), so I don’t count DNA as being a sign right now. But eventually it could be. That will moot this conversation, because at that point we will all be in agreement. Before cholesterol testing, the sign for FH was a thick layer of lipid particles visible when blood was drawn. As our diagnostics improved, the sign of hypercholesterolemia has been refined to a quantitative value. And each field is trying to accomplish the same.

JPLeRouzic 3y ago

> "That means that if you live long enough, you will get ALS." We don't simply don't know that. There is an incredibly wide spectrum of phenotypes, even for SOD1 mutations (~2 of cases) the life span could be as short as 6 months and as large as 25 years. There are ~120 gene mutations that are incriminated in what scientists call ALS. Each of them has dozens alleles on average. In addition there are associations between ALS and dozens of occupations, and exposure to thousands of substances. The scientists tell of multi-step diseases. You are only right in the sense that we will all die at the end.