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. 

Sunday, December 16, 2012

Navigate through my 1000 posts using dynamic views

Blogger has introduced a new way to visually represent blog posts, which allows the reader to easily skim through all posts. This eliminates the big downside to blogging: the disappearance of old posts. Unfortunately, many good features about the old template are lost so I decided not to switch. But they found a compromise until a further upgrade to the new template. You can directly link to this new template called Dynamic Views and run a dual blog site. That's what I do: see the link below the blog title! An added bonus is that I now restrict the recent posts to be displayed to ten, which makes the blog load four times faster!

Enjoy the huge archive! I was amazed at how much I wrote... a valuable resource that is now accessible to the wider stuttering community. I might not be right each time, but surely the reader gets an idea into his mind to wrestle with!

I can even group them according to topics, but for that I need to give all my 1000 posts topic labels... any volunteer to help me out here? ;-)

Genetics Update or Why our community is at least 14'000 years old

Yes, even the Flint Stones might have had to listen to stutterers...

Check out StutterTalk's Peter's as-always excellent interview with Denis Drayna on the "latest Drayna wants to tell us about genetics as of December 2012". Some exciting news: biochemical experiments show that the gene mutation reduces activity of an enzyme by half, the earliest known mutation happened 14'000 years ago, roughly 10% are of the 3-gene subtype, and many more gene signals found.

All-in-all, congratulations to Dennis Drayna's team for their hard and constructive scientific work.

Here are the key nuggets of knowledge and insight that I picked up and commented:

1) They studied the effect of the mutation of the 3 genes of the identified cycle and they see a reduction of the activity of the corresponding enzymes ( a form of protein that accelerates chemical reactions to help the body to produce the stuff it needs to live) by 50%. This fits neatly to a reduced (but not zero) capacity of the brain to function normally in speech. Think of my motorway analogy: we have 2 lanes instead of 4.

2) As we know, more than one gene mutation in the three-gene cycle causes a severe disorder, but only one mutation correlates to stuttering. They also did the biochemical experiment for 2 or 3 mutated genes out of 3, and got a dramatic reduction of 90 respectively 100% of enzyme activity. This neatly explains why 2 and 3 mutation lead to a severe disorder and a single one does not as the body is just about able to handle it biologically.