Old 03-19-2017, 01:21 PM #1 (permalink)
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Default Genetics of ALS/C9orf72

Hi,

I should begin this by saying that, yes, I am very much an anxious person. That being said, I'm really concerned/confused by some of the genetics data I received in my promethease report (tested by 23andme), and was wondering if anyone more familiar with the studies and genetics behind ALS could offer some clarification/information/assurance. I realize that there probably aren't geneticists on here, but you all are so well-versed in this disorder, that I was hoping you could perhaps guide me even a little in understanding what this might mean for my own ALS risk.

I am heterozygous for rs3849942, rs774359, and rs2814707. All of these have association with ALS risk in research studies. rs3849942 and rs2814707, in particular, really worry me, because the studies all say that it "tags" for the C9orf72 repeat expansion. I looked up tagging, and it seems to mean in linkage disequilibrium? I'm not even sure what that means. It does seem that having an A at rs3849942 increases one's risk of having more repeats, if I'm even reading these studies correctly. Since I'm AG, is there a possibility I might not be affected? Do you need to be homozygous, or does it even matter and have nothing to do with whether or not you'll have the repeat, but is still just somehow associated with ALS?

Finally, I also have a mutation in the H63d gene for hemochromatosis (rs1799945 CG). I've read studies saying that this particular SNP has also been implicated in ALS, possibly particularly when combined with all of these other SNPs. I thought it was a harmless variant that just meant I was a carrier for hemochromatosis...I guess they think it might increase oxidative stress.

I'm 27, and have no known family history of this disease in at least the last few generations, but my mom (almost 50) has been experiencing weird symptoms where her leg suddenly and randomly "goes out," as she describes it, for a couple of years. Recently, it's all progressed to a lot of pain in her legs, and muscle twitching throughout her body. She had an EMG done last week, but hasn't been told the results yet. I read in the stickies that pain of that nature without atrophy is not typically an ALS symptom, but now I look at my genetic test and these studies and worry about her having it, or me getting it...

I can't express how much I appreciate you even giving my questions the time of day, and any insight you could offer me. Thank you so much for your time.
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Old 03-19-2017, 03:59 PM #2 (permalink)
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Default Re: Genetics of ALS/C9orf72

Hi Winter,

Wow. That's a lot of science in your post. Only a couple of us might be able to read it, and I'm not one of them. It may take some hours before you get a good answer. In the meantime, I'll just say that you didn't mention any symptoms for yourself, and your mom's case doesn't say ALS to me, either.

You might find a genetic counselor at a research institute or teaching hospital near you.
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Old 03-19-2017, 05:11 PM #3 (permalink)
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Default Re: Genetics of ALS/C9orf72

Do not worry about this result. As an anxious person you say you are you should not have had it done. You get results and have no one to put them into context so of course you worry.

These results do not mean you have C9orf72. Some of the people who have C9orf72 have some of these markers. I think that is where the increased risk comment comes from. Not everyone who has these markers has C9orf72 and there is no reason to believe you do

If your mother has not received test results yet that is a good sign. Bad news travels very very fast and most with ALS are told immediately or within a day or so that is looks like something bad.

I would not waste time or money on a genetic counselor personally
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Old 03-19-2017, 06:46 PM #4 (permalink)
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Default Re: Genetics of ALS/C9orf72

Thank you to both of your for replying - I really appreciate it. It is a lot of science. Thank you, Nikki, for your assurances and opinion. I wonder what the statistics/chances are of having the C9 gene?
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Old 03-20-2017, 12:17 AM #5 (permalink)
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Default Re: Genetics of ALS/C9orf72

Everyone has two C9 genes. I think you mean what are the odds of having a repeat mutation that is indicative of ALS.

I suppose we could find out, but I don't see any use in finding out how many C9 repeats there are in a population of people. If it's one in 800, what would you do with that information? It's not actionable decision-making data.

From here, any concerns you have should go to your GP medical doctor.

Go with what Nikki said. She's 100 times smarter than me.
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Old 03-20-2017, 06:44 PM #6 (permalink)
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Default Re: Genetics of ALS/C9orf72

I had similar results on my 23 and me result. You really had to dig around to know your mutations and snp. I know because I did too. Here is the thing....I have anxiety too so I have an idea about this.....

Do you want to live a happy life, enjoying each sunrise? If so, you need to make a choice. If you had indications for a disease, what could you do about it? Screenings if they are available, eat well, exercise, and enjoy your life. Or you can choose to look into all the nooks and crannies and make yourself anxious....where you are too panicked to enjoy life. Basically everyone in my family dies of cancer. But I enjoy my life because I choose too.
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Old 03-20-2017, 06:50 PM #7 (permalink)
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Default Re: Genetics of ALS/C9orf72

May I note ( in case you do not realize). Gooseberry does NOT have ALS. Sadly, her husband did and the diagnosis date refers to his diagnosis
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Old 03-20-2017, 07:54 PM #8 (permalink)
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Default Re: Genetics of ALS/C9orf72

You really can only go so far with worrying about stuff like this. I am personally shocked my husband does not have cancer, and has not had cancer and will be 67 in May. Why, you ask? Well I am not sure where to being. ALL of his maternal aunts have had cancer, all three. His uncle has had cancer also, so that makes all his mom's siblings. His mother, brother, and youngest sister died of cancer. He oldest sister has had it. His youngest maternal uncle also died of cancer.

I tried years ago to get a private insurance policy covering our home in the event of his death and we were denied by numerous companies based on his family history. Yet, here he is years older than the majority of his relatives were when they got cancer without a spot of it. He has ALS, but no cancer.

Live your life and drop the anxiety, no one knows what tomorrow will bring and today is the best day ever because it is all any of us really ever have.
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Old 03-22-2017, 09:18 PM #9 (permalink)
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Default Re: Genetics of ALS/C9orf72

Thank you all for your perspectives and clarifications. Truly.
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