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Father diagnosed and genetics

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  • Lynne K
    replied
    Thank you again Onein400. A very interesting read. I do hope that they strike gold as it where and find something more quickly than expected. Lynne

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  • Guest
    Guest replied
    Some absolutely fantastic information, thank you. A lot of what you say makes so much sense, its people with your thought process that will beat the disease.

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  • Onein300
    replied
    If it wasn’t so destructive this disease we have would be fascinating. As a scientist I still find it fascinating.

    Just starting off from my last statement, ie that MND is NOT rare. It is 1/300 of all of us.

    Now when you start to deal with that number, all sorts of things start to just seem within the bounds of realism.

    Take for example my village. I have MND, and when I told people about it, suddenly I hear, oh “my mum had that”, and “oh do you know about x in the village?”. To be precise there have been 4 in my village that I know of. But mathematically that is spot on.

    And with footballers, we hear of them because frankly it is a vastly popular spot, massive media involvement and even minor league players have public presence now since the explosion of money on to the scene some 25 years ago in the U.K.

    So, if you look at the size of squads in the premier and top league, you would have about 4000 players, high earners, in the last 25 years all with media contact. So doing the math, we expect about 13 players with names to develop the disease from just that cohort! And this seems to fit the current number coming forward.

    It’s just a matter of time before a real public name in sport in the U.K. announces their diagnosis. After all, celebrity is affects far more people today. People are more willing to go public now as well.

    So the numbers coming forward are well within the normal expected range.

    Sadly we begin to think there is a link because of the media, and it taints the science.

    Now on the evidence, there is some evidence, but it is so small that an innate ability for sport might increase the chance of the disease rather than the actual physical effort of the disease. After all we don’t see a massive increase in the extreme sports like marathon running.

    But at most this effect is tiny, and it is almost certainly genetic (as yet unknown). So we might be able to prevent a tiny amount of cases in the future by advising people NOT to exert themselves. It would be like the genetic cases of sudden heart failure, who now identified MUST not exercise.

    The problem is that all traditional epidiemology is flawed in my opinion for MND because you go looking for something that fits your hypothesis and we have no real clusters.

    If we compare with Smoking and Lung Cancer. The link was patently obvious with lung cancers increasing dramatically with the advent of smoking in the First World War. However, it did take 40 years to prove the link, which now we would see instantly if you view the charts. 90% of lung cancer is caused by smoking end of story.

    We just don’t see any such clusters with MND.

    As mentioned, mathematical analysis has now shown that there are about 6 steps before you develop MND. These most certainly include genetics, time and other factors. But these other factors could be anything that occurs between conception and the day of symptoms!

    It’s actually impossible to use population studies/epidiemology unless we have a sheer bit of luck!!

    I don’t advocate or support studies looking at environmental factors as they are shooting at the wind for MND. The number of factors is infinite. It could be that me drinking banana milkshakes in my 20s was a factor! We only remember factors we think might play a part. The money is best spent on the disease process and how we can slow/interrupt the process.

    To back this up, we now know that with two genes, the number of steps required is reduced to 2 or 1!!

    But we don’t know why the genes make the disease more likely, or how the genes develop the disease. It may be that even in people without certain genes, the process affected by those mutations is actually effected in sporadic cases!!!

    We are going to solve MND, and it will come from genetics, NOT epidiemology. Remember, that many gene mutations might even be unique for a person or so rare, we will never find them. However, we will eventually identify the key metabolic processes.

    Keep hope all, science is going to solve this.

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  • Jaxx
    replied
    My daughter was a competitive swimmer, trained 6 times a week completions most weekends, makes you wonder.

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  • nunhead_man
    replied
    Originally posted by Tecwyn View Post
    I wonder what the link is between football and MND as there does seem to be relatively more current/ex players diagnosed than any other industry or indeed sport.
    There is a general observation that people who've been very active in their lives - not just footballers but mountain climbers, runners, cyclists are represented more than might be expected says he cautiously but there is no obvious causal link.

    I'm a ex racing cyclist, and used to do lots and lots of miles in training and racing in my 20s and 30s and I've commuted in London since 1978.

    Obviously I have wondered, as my MND is not familial, whether some element of the pollution I must've absorbed over the years (NOX, dust from brake linings and car tyres et cetera) has had an impact on me developing motor neurone disease symptoms.

    The steps concept mentioned above makes a lot of sense to me where there might be six steps for those with no genetic involvement (perhaps including dust from car tyres!) and there may be only one or two for those with the more common genes - although "common" seems to be perhaps 10% in total as suggested above.

    There is an epidemiology technique originally used in finding the link between smoking and cancer which has led to this "steps" envisioning.

    We had an interesting presentation from the senior scientist from the Association at the South London a couple of months ago that summarises the current knowledge position and if you send an email to andy at andycawdell.com I will send it to you.

    Keep strong!

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  • Guest
    Guest replied
    Some very insightful information there, you really are doing some good research in this area, keep up the good work. I wonder what the link is between football and MND as there does seem to be relatively more current/ex players diagnosed than any other industry or indeed sport.

    All the best

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  • Onein300
    replied
    Even if you have an inherited gene mutation that is associated with MND that does not mean you develop the disease.
    For the disease to start we believe that a number of steps have to happen. It varies from gene mutation to mutation. Some sod1 mutations are highly penetrant, ie you are more likely to develop the disease. But it’s still not 100%. But other genes are like 20% even if you have the gene.

    Mind you, you might get hit by a car tomorrow or get cancer before!! It’s statistically more likely! If you ride a motorbike, the data shows you are more likely to die from that in your lifetime! Scary!

    I would have genetic counselling if you want to pursue further. There are implications.
    Last edited by Onein300; 17 October 2018, 07:13.

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  • Lynne K
    replied
    Oh I see. Thanks Dani. Lynne

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  • Dan
    replied
    Lyne... I come from a family of 16 children that’s why it’s sounds a lot! Not 50% yet but not far off...Dani

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  • Lynne K
    replied
    Gosh Dan. That's the first I've heard of so many siblings to have MND. Not good at all. Lynne

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  • Ellie
    replied
    Yes Dani, you're right - most of inherited genes which cause ALS are in an autosomal dominant pattern, and, to a much lesser extent, are in an autosomal recessive pattern.

    Ellie x.

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  • Dan
    replied
    I have genetic sod1 MND and have always been told by neurologists that this is a dominant gene ie 50% chance of getting it. I come from a large family...which does distort the figures but I am the 5th sibling to have MND in my family. It is possible to carry the gene without getting the disease. I think my mother was the carrier...she died of a heart attack at 58yrs old. I just thought I would add to the debate. There are so many theories around ......Cheers Dani

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  • Guest
    Guest replied
    Onein400.. You seem very knowledgable in the genetic side of things, please would it be possible to elaborate on the following especially the part about it NOT being dominant/recessive inheritance

    Also just because there are no cases in a family (largely due to recall), that doesn’t mean a case is NOT genetic related. Families are quite small these days. It is also important to know that even if you have one of the currently identified gene mutations, it is not 50/50 thar you will get MND. MND is NOT a simple dominant/recessive gene inheritance disease.

    Best wishes

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  • Guest
    Guest replied
    Thanks onein400, some interesting information. I happen to agree with what you are saying as it makes sense but still I think some reserve needs to be in place when educating the public as any misinterpreted information could lead to a lot of anxiety and worry. Neurologists and specialists are still very much giving patients a sporadic or familial diagnosis and are also from what I am gathering reassuring families that there is no need to worry if it doesn't run in the family.

    Many best wishes

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  • Guest
    Guest replied
    Originally posted by Lynne K View Post
    I hope that you don't mind me chipping in Tecwyn. Worry is normal for a short time. But best to sort it out quickly because it wastes time if anybody dwells upon some unknowable negative thing. Even if you had a 50% chance of getting MND (which I doubt very much) why waste energy and ruin years of future happy times by keeping it at the front of your mind. I think that you are like me and a lot of others in that you like facts, assurity. But gaining some composure and peace while dealing with this horrid disease requires a bit of letting go of what may or may not happen in the future. As you said to Ellie earlier 'what will be, will be.' Very philosophical and true. Ask your questions of your dad's neurologist soon if you can. Get genetic testing if it will help. But whatever you do, live a full and happy life. Don't let MND take that from you. Lynne x
    Thank you Lynne, some very wise words and thoughts there, hopefully my dad can learn to stop thinking of the future too much

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