tag:blogger.com,1999:blog-12602489.post7158284550581235496..comments2024-03-24T15:07:18.773+01:00Comments on The Stuttering Brain: Breaking News: Stuttering Genes "officially" foundTom Weidighttp://www.blogger.com/profile/02084153394215001999noreply@blogger.comBlogger20125tag:blogger.com,1999:blog-12602489.post-68570324452479438992010-02-13T22:12:20.380+01:002010-02-13T22:12:20.380+01:00Ora,
My problem with the article (and the Stutteri...Ora,<br />My problem with the article (and the Stuttering Foundation's claims) was that it was drawing irresponsible conclusions. It was going well beyond what the science said.<br /><br />It says that stuttering tends to run in families but it doesn't say until later that it's ESTIMATED it MIGHT be genetic in half the cases. I've read other estimates that put that number lower.<br /><br />Several times it makes a reference to parents of SLP's breathing a sigh of relief that they didn't cause their kid's stuttering. I'm an example of a stutterer who started because of over-aggressive speech therapy. I've spoken to numerous others as well. So to make a blanket statement that parents and SLP's don't play a factor in a child starting to stutter is irresponsible. Especially when considering the gene would most likely show a potential to stutter, not a guarantee. Outside factors would still play a part.Toreyhttps://www.blogger.com/profile/01381378881198915291noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-42107027000463826592010-02-12T19:24:05.417+01:002010-02-12T19:24:05.417+01:00Ora
Genes can have additive effects - the effect ...Ora<br /><br />Genes can have additive effects - the effect of each sum to the total effect you see in the individual. It is possible that the genes on chromosome 12 were combined in these individuals with genes of lesser effect to produce their stuttering. If one gene produces 70% of the effect, and two produce 15% each, it would be difficult to find the lesser genes without very large sample sizes in the study. Most past genetic studies of stuttering have suggested additive genetic effects with possible environmental effects as well. <br /><br />On your other question, stuttering is sex-affected, not sex-determined, so the X and Y sex chromosomes are probably not involved. <br /><br />There are many medical conditions that are very similar to stuttering in that it affects males more often than females. <br /><br />There could be sex-differentiated triggers like hormones that determine gene expression. The same gene can be expressed at different times during development in different parts of the body for totally different reasons. <br /><br />Then again, you could think of it this way: all embryos start out female, and some develop as male due to genetic coding. So in a sense, males are females gone bad, and it's not surprising that males have so many more problems than females. ;-)Mark B.https://www.blogger.com/profile/03524735496130204611noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-33447191597666560222010-02-12T11:22:31.350+01:002010-02-12T11:22:31.350+01:00Torey -
I'd be interested to know what you i...Torey - <br /><br />I'd be interested to know what you identify as false claims in the AP article that you referenced (http://news.yahoo.com/s/ap/20100211/ap_on_he_me/us_med_stuttering_genes). I looked at it and didn't find anything especially egregious.Orahttps://www.blogger.com/profile/07560420178241698669noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-62073439213944120072010-02-12T11:19:48.484+01:002010-02-12T11:19:48.484+01:00Mark -
Is there any significance or interest to ...Mark - <br /><br />Is there any significance or interest to the fact that the variant genes are found on chromosome 12? Does this link it with any other genotypes related to different genes on chromosome 12? <br /><br />What about the fact that we know that the incidence of stuttering is much greater in males than females. Does that suggest that we might expect to find genes implicated in stuttering on chromosome Y (which I believe males have but females don't)?<br /><br />Thanks for your explanations.Orahttps://www.blogger.com/profile/07560420178241698669noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-732130524850867042010-02-12T04:14:24.237+01:002010-02-12T04:14:24.237+01:00myself, an uncle and cousin all have stuttered sin...myself, an uncle and cousin all have stuttered since our first words. I tried many years ago to get a speach specialist to look into this and was denied based on being coincidental. <br /><br />Meanwhile we have Pagaclone in a phase 2B, how is this working for some patients if this is biological? <br /><br />I do agree it is a long way before proactive steps are taken in terms of biological treatment. <br /><br />GeorgeAnonymousnoreply@blogger.comtag:blogger.com,1999:blog-12602489.post-91584246010346446302010-02-12T02:58:28.201+01:002010-02-12T02:58:28.201+01:00Preterosso
In Pakistan, as in many places, cousin...Preterosso<br /><br />In Pakistan, as in many places, cousin marriages are encouraged. As a result, particular rare genes can get "concentrated" in the family. That is what happened in the families Dr Drayna works with. Similar things happen in the Hutterites in North America - small, closed social groups where everyone is related. Working with these groups makes it easier to find rare genes, so these particular genes are the first ones to be found. If you did the same work in Germany or Canada, you'd have to use much, much larger populations - more money, more time. There may be many more genes that contribute to stuttering at even lower levels, but they will be discovered later. <br /><br />Your case - onset at 14 - certainly seems to be a rare one. It's certainly also possible that your cause is different from most other stutterers. What makes sense on average doesn't necessarily do the individual any good. I have no stuttering history in my family that I'm aware of for three generations at least, but I'm a classic case.Mark B.https://www.blogger.com/profile/03524735496130204611noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-39588698993915740052010-02-11T22:56:30.184+01:002010-02-11T22:56:30.184+01:00Mark - I don't disagree with what you said and...Mark - I don't disagree with what you said and appreciate the explanation. My major problem is that, like you said shouldn't be done, people are making much more from this as is really present.<br /><br />The Stuttering Foundation has such false claims on their website right now, as does this AP article:<br />http://news.yahoo.com/s/ap/20100211/ap_on_he_me/us_med_stuttering_genesToreyhttps://www.blogger.com/profile/01381378881198915291noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-40542087979448513472010-02-11T22:11:02.798+01:002010-02-11T22:11:02.798+01:00Mark
I understand that there doesn't have to ...Mark<br /><br />I understand that there doesn't have to be a single occurrence in my family for me to be the first one with all the "necessary" genetic mistakes which cause stuttering. But if they only found 9 per cent of stutterers with this "stuttering gene", why do the rest of the people stutter? Another gene they haven't discovered yet? Or there are different kinds of stuttering? I, for example have always felt very different from those fellow stutterers I have met (partly during the therapy) in the following respects:<br />1. I only started stuttering at the age of 14.<br />2. I knew there was something wrong with me months before my first stuttering experience.<br />3. I have always felt/knew that suttering itself is only a superficial symptom so much that when I (have to) talk about stuttering it always feels like lying or not talking about what would really be important about it.preterossonoreply@blogger.comtag:blogger.com,1999:blog-12602489.post-41592939614309628052010-02-11T21:57:26.636+01:002010-02-11T21:57:26.636+01:00Mark - Thanks for that information.
It's nic...Mark - Thanks for that information. <br /><br />It's nice to have someone around with a background in genetics. It's fascinating stuff.Orahttps://www.blogger.com/profile/07560420178241698669noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-20644436358696129892010-02-11T21:11:39.962+01:002010-02-11T21:11:39.962+01:00Thanks Mark for these precisions.Thanks Mark for these precisions.Ohttps://www.blogger.com/profile/13524864055602706537noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-36064597186521130072010-02-11T20:33:38.564+01:002010-02-11T20:33:38.564+01:00Ora
I am reading the paper. Scientists sometimes ...Ora<br /><br />I am reading the paper. Scientists sometimes have to talk about cures to get the funding that will pay for basic research. They know that cures so not often follow basic research breakthroughs quickly, but if the basic groundwork is not done, the work that will later lead to a cure will not be done either. The fact is, until now, no one has considered lysosyme failure as a cause of stuttering. If there will ever be a cure for people like those in this study, that knowledge may be critical. Now, researchers can start asking direct questions about how lysosyme proteins and stuttering are connected. And the techniques used in this study can be used to find more genes that may have very different effects in different stutterers.Mark B.https://www.blogger.com/profile/03524735496130204611noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-45915166796439853972010-02-11T20:24:59.312+01:002010-02-11T20:24:59.312+01:00Torey
Stuttering has already been shows to have a...Torey<br /><br />Stuttering has already been shows to have a genetic component in some people to a high degree of certainty. In breast cancer, one of the first genes found affected an estimated 5% of cases. That, and this "stuttering gene," is what we would expect to find. If there was a single gene that always caused stuttering, we would already know about it. Medical conditions are frequently much more complicated than that. <br /><br />This discovery does not "prove" anything that can be generalized to all stutterers. It does show that at least in some cases, a particular gene probably sets off the possibility of persistent stuttering. It is reasonable to expect that more such genes will be found, as is true in other such conditions. No one should make more or less of this than the data support.Mark B.https://www.blogger.com/profile/03524735496130204611noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-3940239346931182722010-02-11T19:56:33.370+01:002010-02-11T19:56:33.370+01:00I read about this in an AP news piece and from the...I read about this in an AP news piece and from the Stuttering Foundation. I was very dismayed at how this was being portrayed. It's good that new info is found, but people are drawing irresponsible conclusions. It's being touted as "Stuttering is now proven to be genetic!" instead of simply that genes were found that tie to stuttering in a small percentage of cases. There was huge insinuation that "the myth that stuttering is caused by mean parents can now be put away!" To me, it felt like people are using this information to make well meaning teachers or ignorant speech therapists feel better about harm they've done to children, i.e., "eh, it's all genetic."<br /><br />I'm glad that Tom didn't take that approach.Toreyhttps://www.blogger.com/profile/01381378881198915291noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-57735580229927607462010-02-11T19:14:26.037+01:002010-02-11T19:14:26.037+01:00My understanding is that it's a long road from...My understanding is that it's a long road from discovering a gene(s) to discovering a cure. <br /><br />Discovering a gene is sometimes useful in treating a condition, but there are many conditions which are genetically determined for which no cure is available.<br /><br />Tom or Mark - Can you say more on this? Is there any reason to think that this discovery might lead to a cure?Orahttps://www.blogger.com/profile/07560420178241698669noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-59996877069256557202010-02-11T17:50:06.680+01:002010-02-11T17:50:06.680+01:00Preterosso
Penetrance is the proportion of people...Preterosso<br /><br />Penetrance is the proportion of people who have the particular genetic variant and also show the associated trait. It is very common in genetics to see less than 100% of individuals carrying the genotype to express the phenotype (as geneticists would say it). Also, a genetic mutation may be carried by both your mother and father, and only a fraction of their children would show the trait. Inheritance is much more complicated than direct father-to-son, but the rules are well known and understood.Mark B.https://www.blogger.com/profile/03524735496130204611noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-663202411191542682010-02-11T17:08:30.651+01:002010-02-11T17:08:30.651+01:00I don't want to sound skeptical but as I read ...I don't want to sound skeptical but as I read it's only a small proportion of stutterers (9 per cent)who are carriers of any mutated genes. The history of my family both on my mother's and my father's side is well documented and I still seem to be the only stutterer in the family.preterossonoreply@blogger.comtag:blogger.com,1999:blog-12602489.post-6067310866181253302010-02-11T16:40:29.286+01:002010-02-11T16:40:29.286+01:00Great news - now what is the next step?
Can medic...Great news - now what is the next step?<br /><br />Can medication be created to 'fix' <br />the gene(s)?Harrynoreply@blogger.comtag:blogger.com,1999:blog-12602489.post-18695282071028854872010-02-11T14:48:12.457+01:002010-02-11T14:48:12.457+01:00Peter, my understanding is that it's the poten...Peter, my understanding is that it's the potential.<br /><br /><br />Original article can be read here: http://content.nejm.org/cgi/content/full/NEJMoa0902630Dave Rowleyhttps://www.blogger.com/profile/05075890277885768921noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-12598062004559930242010-02-11T12:42:54.049+01:002010-02-11T12:42:54.049+01:00For my own understanding - does this mean that STU...For my own understanding - does this mean that STUTTERING is inherited, or that the POTENTIAL to start stuttering is inherited?Peter Louwhttps://www.blogger.com/profile/11762124725640299873noreply@blogger.comtag:blogger.com,1999:blog-12602489.post-28361503476238977222010-02-11T11:57:21.041+01:002010-02-11T11:57:21.041+01:00Excellent news. Now it remains only how to impleme...Excellent news. Now it remains only how to implement this as a cure :)Chatahttp://www.mucanje.infonoreply@blogger.com