Saturday, December 10, 2011

TED Talk on the brain

For a visually beautiful introduction to the brain and how scientists are measuring the structure and gene activity. Check out the TED TALK by Allan Jones. You can even access the data on-line. Download the software and zoom into the brain. These maps are important to study brain disorders, including stuttering. As far as I know, no-one is using these maps in stuttering, or working on building up a database of dead stuttering brains.

Would you donate your brain? I am not sure I would. Slicing up my brain would inevitable lead to my final destruction... even though it won't really matter because I am already dead at that point!

I also wonder whether you need healthy, fully developed, and not yet declining brains, ideally 25 years of age. Foundas did some research on the anatomical structure of stuttering brains. But I am not sure if they were dead or not.

(Thanks to Will for pointing this video out to me!)


Hugo said...

Using the software associated with the Allen Institute's project, the Brain Explorer, I looked on the map which region of the brain had higher expression of GNPTAB gene (one of three genes associated with stuttering discovered so far). The result was the facial motor nucleus. Very surprising. Look the image: Brain region with higher GNPTAB gene expression

Ellen said...

Hugo and Tom,

Based on the levels of gene expression of GNPTAB, GNPTG and NAGPA in the brain, can't scientists find that neurons are more dependent on biochemical processes regulated by them and why subtle mutations in these genes selectively affect speech?

Hugo said...

Theoretically, yes. Taking into account that the higher the level of expression of a gene in particular cell, the greater its dependence on the metabolic pathway regulated by that gene, it would be really possible - from brain genic expression mapping - to determine quite accurately that neurons are more susceptible to mutations. After discovery of specific neurons involved in origin of stuttering, the next step would be to find out why its malfunction affects so selective fluency of speech.

Anonymous said...

Keep in mind that the above gene mutations were not present in any of the tested stutterers outside the Pakistani family.

Tom Weidig said...

@Hugo: I don't share your opinion on treatment.

Remember that this mutation very likely already caused havoc in the developing brain of the infant and toddler. That damage is likely permanent.

Fixing the gene or the protein will probably not help that much. Of course, I don't know for sure.

Tom Weidig said...

@Hugo: but interesting use of data. I would need to look at this closer. What is your reply to Anonym's comment. I don't quite understand his argument, because you look for where the gene(s) is active and not at any mutation in those genes.

Hugo said...

@Anonymous: Your statement is far from the truth. The mutations also were present in individuals from Europe and North America that were not related to the Pakistani sample. The proof is in this data table, taken from original article.

Another proof:
Greg Snyder, owner of blog, was among the participants who had no relationship to the test group in Pakistan. Read for yourself the result of his examination: "Just got a call from the NIH, and they found something…"

Hugo said...

@Tom Where did you read something related to treatment in my comments? I restrict myself to talk about possible practical uses that data can have on stuttering research and on understanding we have of the disorder. If you have understood other way, I apologize for the misunderstanding that has caused my text. English is not my native language.

Hugo said...

Tom said: "you look for where the gene(s) is active and not at any mutation in those genes."

Correct! It is not necessary to analyze people that have the mutations to find out in which brain regions the genes are most active, and thus which regions are more dependent on the metabolic pathways mediated by these genes. These are exactly the regions most susceptible to mutations that lead to any changes in the function of proteins that act in these pathways.

Anonymous said...

For the first time in my life I just saw a real-time video of how complex the brain is, perhaps it is the most complex thing in the universe... This also tells me that we are not hundred but perhaps thousands or endless years away to fully understand the brain and let alone cure various brain disorders such as stuttering... for now I should get used to live as a stutterer and forget the idea of a cure at least in my life time. All the best to us all!

Jeff Klein said...

Very pertinent comments made by Hugo. Since discovery of first genes related to stuttering, one question that remains in the air is: Why would subtle dysfunction of a basic process found in many cell types (lysosomal enzyme–targeting) selectively affect the neural circuits involved in speech fluency and, equally important, what are these circuits?

Data from this wonderful project funded by Allen Institute can finally begin to answer that crucial question. This, of course, if stuttering researchers don’t remain indifferent to this revolutionary breakthrough in brain study.

Jay Bohland said...

I'm pleased to see the interest in using spatial profiles of gene expression to help us better understand stuttering and other speech and language disorders.

This is work we've started doing in my group at Boston University, and I actually included some preliminary results examining the three genes identified in the Kang et al. (2010) NEJM paper as well as genes on chromosome 3q13, in a region of linkage identified by Raza et al. (2010) in a talk I recently gave at the ASHA convention.

It's interesting to note that certain basal ganglia and white matter structures are "outliers" in the expression patterns of the three known genes, and that there are strong relationships between the brainwide expression patterns of those three genes.

We'll hopefully have more to say in a preliminary paper in the coming year. If you're interested, you can also take a look at for a crude view into a database of genes we've curated from the literature, which are thought to be involved in several speech and language phenotypes. For persistent developmental stuttering (click the hyperlinks) we've also started to curate the anatomical and functional differences that have been observed between individuals who stutter and controls.

I've worked in detail with collaborators at the Allen Institute on analysis of the mouse brain gene expression atlas, and we're really excited at the opportunities presented by the new human brain datasets.

Jay Bohland
Boston University

Leonard Cavendish said...


CNTNAP2 must be included in the database of genes related to stuttering. Look at this paper.