Thursday, December 27, 2012

Frank's gene mutation

Gene Mutations Gene Mutation : Base pair Insertions or Deletions, Causes, Mutation Disorders
Frank was so kind to write up his experience of having been diagnosed with a gene mutation that correlates to stuttering. I am not exactly sure whether it is the 3-gene system that everyone talks about. What is also interesting is that people with Ashkenzi ("Central/Eastern European") Jewish ancestry seems to be more likely to have this gene mutation. It is very likely that as genetic subtypes seems to exist, they are more prevalent in some ethnic groups.

Frank reports...
I became involved in the study via my participation in the NSA convention that took place in New Jersey (where I live) in 2008. I attended Dr. Drayna's workshop on the genetics of stuttering and during the course of the workshop he asked participants in the workshop who stutter and have family members who stutter to donate a blood sample for inclusion in his study. My father stutters so I volunteered to provide the blood sample. 
Several months later he called me to say that I had the genetic mutation they where studying; that this genetic mutation on chromosome 12 was related to the rare genetic disease of mucolipidosis. He said there was some indication of stuttering in some patients with mucolipidosis. He invited me to come to the NIH in Bethesda, Md. for several days for a complete study of my physical and sensory systems to determine if I had any other physiological changes associated with this disease.I was very interested in this study, after doing a little research about this disease on the web, as some forms of it are more common in members of the Ashkenazi Jewish community of which I am a member. 
I spent three days at NIH. Dr. Drayna mentioned that I had a double copy of the mutation but didn't get the disease as I lack a likely "starter gene" required to get the full blown disease. I received a complete physical while at NIH; they seemed to be especially interested in the skeletal system and took numerous x-rays. I recall receiving EKG and EEG testing and very likely other tests I don't recall. I should mention the staff was very pleasant and accommodating and both my wife and I stayed at the Safra Lodge at NIH that was very pleasant. 
At the conclusion of my stay at NIH I was I was told they didn't find physical abnormalities other than some spinal arthritis common in people my age (I'm 62); they also didn't correlation with severity of stuttering and the presence of this mutation. They were kind enough also to send a copy of the study results as they appeared in the New England Journal of Medicine in 2010
This study has had a significant effect on my attitude toward my own stuttering as I now believe my stuttering has a strong genetic component and I'm much more accepting of my disfluencies. 

6 comments:

Jesse Reinhalter said...

There is some evidence that stuttering MAY have origins with mitochondrial dysfunction, sharing similarities with bipolar disorder and schizophrenia. Per this article here: http://www.lef.org/magazine/mag2013/jan2013_CoQ10-The-Longevity-Factor_01.htm
it appears high doses of CoQ10 may have some effect on mitochondrial dysfunction. I'm going to try this for a bit and will report back.

Tom Weidig said...

Where is the evidence on that page? You seem to be a spammer who just wants to direct my readers to this website?? If not, show me the evidence.

Jesse Reinhalter said...

Haha. No, Im not a spammer. I could care less about the Life Extension site. In fact most of their stuff is WAY overpriced.

"Major depression, bipolar disorder, and schizophrenia, long considered separate entities, are now recognized as having common roots in mitochondrial dysfunction and elevated brain oxidative stress levels.45,46 People with these conditions have higher markers of oxidant damage and lower cellular antioxidant levels than do healthy controls, and CoQ10 is typically lower than normal.45,47 In one study, 51.4% of depressed patients' CoQ10 levels fell below the lowest values in control subjects.48"

The numbers associate to referenced research found on page 2 of the article.

Anonymous said...

If its the messed up gene sequence that causes stuttering then i can expect a cure within 10 years by just cloning the partner gene and making it G-G and T-T

Will just take a breakthrough which i expect will come in the next 5 years and then 5 years from then we can have a cure.

Wish i was born after 20 years lol.
Anyways stuttering is cool. Very cool :)

Life is about being happy and doing good. Not stuttering.

Tom Weidig said...

@Anonym:

I do not think it is that easy.

1) The brain is already built, and the gene is involved in the development of the brain. Then it might have disrupted the brain from developing properly. And once it's done, it might not be possible to be undone.

But it could also be that the gene is just involved in the functioning of the brain and not its structure and then it might be possible to find a treatment but providing the body with the proteins needed that are rare due to the gene mutation

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