Sunday, May 15, 2016

No, a quick cure for all is far away.

The author of this article is completely misinterpreting the likelihood of a cure: read here.

But of course that will prevent virtually no mainstream journalist and desperate pws to jump on the bandwagon.

Let me clarify the stuttering mouse hype:

1) this mutation as far as I understand occurs in 5% of all people who stutter. So even if those people could be cured, the remaining 95% would not.

2) even if the mutation is proven to cause it and we would know the causal link between mutation and neurobiology vulnerable to jams in the brain, there is no guarantee that the damage done by the mutation change be counteracted.

3) even if an antidote to the mutation can be found, e.g. by providing the body with the missing proteins that the mutation did not produce, the protein might have been critical for proper development of neurobiology and thus will only help children who are developing their neurobiology but not adult brains. A bit like it is too late to use better cement once the house is built!

4) even if an antidote exists, it is not clear whether it has side effects.

Nevertheless,

1) a hype for a cure, even if completely misguided, could lead to political pressure to put much more money into stuttering. Why are you financing stuttering research, you terrible politicians??? Do you want to be responsible that little stuttering kids are cured?

2) it is the first example of proving that genes are correlated with stuttering behaviour and untangling the causal link will definitely help us understand at least 5% of stuttering.

7 comments:

Anonymous said...

Thank you for your update Tom. Please continue to post more! Love reading your posts.

Anonymous said...

Tom, I think that a cure is very much far off but the thought of something that could curb it shouldn't, perhaps, be so far fetched. As a person with a stutter, it feels like the stutter is caused by an event in the brain that happens randomly which, in turn, interferes with fluent speech. Maybe that event can somehow be curbed? I've experimented with plenty of pharmaceuticals and some of them has curbed stuttering very well (trust me, it's not just the anti-anxiety effect of drugs, I still stutter when I don't feel anxious at all). They can't be taken every day though because of the side effects, but are an excellent crutch. What are your thoughts regarding this?

Anonymous said...

Anonymous, are you talking about pheni?

Bob said...

Tom, your percentage is wrong. The genetic cause of approximately 20% of cases of stuttering was already unveiled. Mutations in genes GNPTAB, GNPTG and NAGPA account for 16%, while mutations in the gene AP4E1 account for about 4%. Please check the references below:

(1) Raza MH, Moretti-Ferreira D et al. Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes. European Journal of Human Genetics. 2015 Jul 1. doi: 10.1038/ejhg.2015.15

(2) Raza, M. Hashim et al. Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. The American Journal of Human Genetics , Volume 97 , Issue 5 , 715 - 725. doi: 10.1016/j.ajhg.2015.10.007

Bob said...

Interestingly, all identified mutations affect proteins related to intracellular trafficking efficiency. Why?

Bob said...

Tom, sorry to tell, but your percentage (5%) is completely outdated. Genes which cause approximately 20% of persistent developmental stuttering have already been found. A revealing epidemiological study conducted in the middle of last year showed that mutations in genes GNPTAB, GNPTG and NAGPA account for 16% of cases worldwide, while mutations in the gene AP4E1 account for about 4%. Interestingly, all four identified genes are related to the intracellular trafficking of proteins. Please check the references below:

(1) Raza MH, Moretti-Ferreira D et al. Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes. European Journal of Human Genetics. 2015 Jul 1. doi: 10.1038/ejhg.2015.15

(2) Raza, M. Hashim et al. Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. The American Journal of Human Genetics, Volume 97, Issue 5, 715-725. doi: 10.1016/j.a

Tom Weidig said...

Thanks for the update!

The paper I saw spoke about 5% of cases being affected in the US with a mutation in one of the three genes.

Tom