NationStates Jolt Archive

Yeah, people, well, I'm doin' a bit of research. I don't want to bore you with the details people, but the following two questions popped up:
Torsion dystonia (http://en.wikipedia.org/wiki/Torsion_dystonia) is described as being "caused by a dominant allele" - This does mean that if one happens to have inherited this mutation from one parent, then it does take precedence over the inheritance of a healthy gene expression from the other parent. Correct?

Would that mean that such a genetic expression could spread through the entire human population unhindered, for it will always take precedence over the "healthy" expression, meaning that whenever a person with this mutation has children with someone without mutation, the offspring will carry the mutation, thus also having children with the mutation, regardless of the sexual partner?

Now, the advanced stuff:

Apart from spasm and all that unwanted stuff, the desease also seems to increase IQ. Now, does anybody know anything about how that works? Any research results?

Finally, the medical effect is that the mutation "causes the loss of an amino acid, glutamic acid, in the torsinA protein. The defective protein creates a disruption in communication in neurons that control muscle movement and muscle control." Could this be achieved artificially by some form of medication, thus also replicating the intelligence-boosting effect?

I know, this is a very specific thread and should belong into a forum on genetics and not into any place labeled General. But in all my years on NS, I've seen alota smart people running wild in this forum. Perhaps this will be deleted. If not, maybe one or two people with some knowledge of these things will take a look into it.

Yeah, people, well, I'm doin' a bit of research. I don't want to bore you with the details people, but the following two questions popped up:
Torsion dystonia (http://en.wikipedia.org/wiki/Torsion_dystonia) is described as being "caused by a dominant allele" - This does mean that if one happens to have inherited this mutation from one parent, then it does take precedence over the inheritance of a healthy gene expression from the other parent. Correct?
Yup.

Would that mean that such a genetic expression could spread through the entire human population unhindered, for it will always take precedence over the "healthy" expression, meaning that whenever a person with this mutation has children with someone without mutation, the offspring will carry the mutation, thus also having children with the mutation, regardless of the sexual partner?
Not necessarily. Having torsion dystonia could affect your ability to procure a mate.

Now, the advanced stuff:

*wanders off*

Yeah, people, well, I'm doin' a bit of research. I don't want to bore you with the details people, but the following two questions popped up:
Torsion dystonia (http://en.wikipedia.org/wiki/Torsion_dystonia) is described as being "caused by a dominant allele" - This does mean that if one happens to have inherited this mutation from one parent, then it does take precedence over the inheritance of a healthy gene expression from the other parent. Correct?

yes

Would that mean that such a genetic expression could spread through the entire human population unhindered, for it will always take precedence over the "healthy" expression, meaning that whenever a person with this mutation has children with someone without mutation, the offspring will carry the mutation, thus also having children with the mutation, regardless of the sexual partner?

those affected do not mate. hence it could never become the norm.

Now, the advanced stuff:

Apart from spasm and all that unwanted stuff, the desease also seems to increase IQ. Now, does anybody know anything about how that works? Any research results?

Finally, the medical effect is that the mutation "causes the loss of an amino acid, glutamic acid, in the torsinA protein. The defective protein creates a disruption in communication in neurons that control muscle movement and muscle control." Could this be achieved artificially by some form of medication, thus also replicating the intelligence-boosting effect?

I know, this is a very specific thread and should belong into a forum on genetics and not into any place labeled General. But in all my years on NS, I've seen alota smart people running wild in this forum. Perhaps this will be deleted. If not, maybe one or two people with some knowledge of these things will take a look into it.

correlation does not equal causation. being confined in a wheel chair while other children are involved in athletics may be the cause of intelligence.
Also the disease tends to affect jews so the affected child is much more likely to have educated parents and more likely to be above average in intelligence ( both nature and nurture).

You could generate the affect artificially but it will always come with the muscle spasms and to get the intelligence boost one will need to always have the spasms. but social isolation may be the cause of intelligence. you cant play outside because you have muscle spasms your more likely to stay in and read a book.

Yeah, people, well, I'm doin' a bit of research. I don't want to bore you with the details people, but the following two questions popped up:
Torsion dystonia (http://en.wikipedia.org/wiki/Torsion_dystonia) is described as being "caused by a dominant allele" - This does mean that if one happens to have inherited this mutation from one parent, then it does take precedence over the inheritance of a healthy gene expression from the other parent. Correct?

That is what dominant means, yes.

But, according to your article:

"However, only 30 to 40 percent of those that do have the gene actually have symptoms, leading researchers to believe that here is another factor involved."

So the allele is dominant, but it appears that something else also has to be true (perhaps some other genetic factor) for the symptoms to show up.

Would that mean that such a genetic expression could spread through the entire human population unhindered, for it will always take precedence over the "healthy" expression, meaning that whenever a person with this mutation has children with someone without mutation, the offspring will carry the mutation, thus also having children with the mutation, regardless of the sexual partner?

No. An affected person will not necessarily pass on the trait to his offspring. He could carry one copy of the mutation and one copy of the gene without it. There is essentially a 50/50 chance that he would pass it on to offspring.

Apart from spasm and all that unwanted stuff, the desease also seems to increase IQ. Now, does anybody know anything about how that works? Any research results?

Finally, the medical effect is that the mutation "causes the loss of an amino acid, glutamic acid, in the torsinA protein. The defective protein creates a disruption in communication in neurons that control muscle movement and muscle control." Could this be achieved artificially by some form of medication, thus also replicating the intelligence-boosting effect?


I'm not familiar with this disease or the research on it, so I really couldn't answer any of this without digging deeper (and I'm afraid I don't have the time right now). If this mutation does cause an increased intelligence (rather than simply being correlated to it), it could be possible to isolate that effect and try and boost intelligence. It would depend heavily on exactly how it did so. If it was a primary effect of the disease, it would probably be difficult to separate it out from the spasms. If it is a downstream effect, it might be possible to use something further along in the process that doesn't directly affect muscle control.

No. An affected person will not necessarily pass on the trait to his offspring. He could carry one copy of the mutation and one copy of the gene without it. There is essentially a 50/50 chance that he would pass it on to offspring.

If it IS caused by a dominant allele(Or however you spell it), then it'd actually be a 75-25 chance of passing it on.

A simple dominant, when it is present, always expresses over the recessive. If the gene is carried as a single dominant paired with a recessive in one parent, and the other parent carries only recessives, then the gene has a 50% probability of showing up in the offspring. If the dominant is carried twice by the one parent, and the other parent carries only recessives, the gene shows up 100% of the time in the offspring.

If the gene is carried as one dominant by both parents, with the other gene being a recessive, the gene shows up 75% of the time in the offspring.

This can been seen here:

http://www.pillarsoftanelorn.com/genetics1.jpg
http://www.pillarsoftanelorn.com/genetics2.jpg
http://www.pillarsoftanelorn.com/genetics3.jpg

If it IS caused by a dominant allele(Or however you spell it), then it'd actually be a 75-25 chance of passing it on.
Only if both parents have it. Otherwise it's 50/50.

If it IS caused by a dominant allele(Or however you spell it), then it'd actually be a 75-25 chance of passing it on.

No, if the parent is heterozygous with a dominant mutation (Aa), he has a 50% chance of passing on the dominant allele and a 50% chance of passing on the recessive allele.

If the other parent was homozygous for the normal gene - aa (bolding and color for clarity - to see where the genes are coming from). That would give the possibilities as:

Aa
aa
Aa
aa

The dominant allele (the mutation) is present in 50% of the offspring. It would change, of course, if the other parent carried the trait or if either was homozygous for it (in the latter case, the offspring would always carry it).

As someone else already pointed out, there would be a 75% chance of any offspring getting the gene if both parents were heterozygous for it. But each individual parent would have a 50% chance of passing it on.

Correct the quick answer is not. There is also the issue of darwanism for every genetic trait (altho im not too sure if this will be possitive or negative). As for what causes it there should be something on a government web site or research paper, or society that has this condition.
Time to study :D

Not necessarily. Having torsion dystonia could affect your ability to procure a mate.



those affected do not mate. hence it could never become the norm.


Well, because:


"only 30 to 40 percent of those that do have the gene actually have symptoms, leading researchers to believe that here is another factor involved."

So the allele is dominant, but it appears that something else also has to be true (perhaps some other genetic factor) for the symptoms to show up.


the gene expression could likely be spread further by those that have it, but aren't affected by the desease.

Then, it would matter to me wether those people that have the gene expression, but are not affected by the desease, also have higher intelligence.

If yes, this would refute:

correlation does not equal causation. being confined in a wheel chair while other children are involved in athletics may be the cause of intelligence.


Finally:


Also the disease tends to affect jews so the affected child is much more likely to have educated parents and more likely to be above average in intelligence ( both nature and nurture).


Well, in fact, torsion dystonia and some other mutation that is usually associated with some disability (but which I cannot recall now) is said in some sources to be the very reason for the high average intelligence in ashkenazi jews. This leads me also to the conclusion that the mutation increases intelligence in a given individual, even if the desease doesn't affect the individual (or the avg intelligence is raised by the one other mutation I cannot recall...)

I feel this terrible urge to mention the "no homework help threads" rule ...:p

Unfortunately, I'm so far out of my depth I can't even figure out if it is homework.

(Shoulda picked my genes more carefully, I guess.)

I feel this terrible urge to mention the "no homework help threads" rule ...:p

Unfortunately, I'm so far out of my depth I can't even figure out if it is homework.

(Shoulda picked my genes more carefully, I guess.)

Nope, this is no homework. It is just some far-fetched manifestation of my personal interests, so no worries...:p

Apart from spasm and all that unwanted stuff, the desease also seems to increase IQ. Now, does anybody know anything about how that works? Any research results?

Well, first of all, it's very possible that, if you're confined to a chair for a very long time, you could just naturally become smarter out of shear 'not being able to do anything else'

On the other hand, most genes tend to affect multiple aspects of the body, so it's possible that this gene also contributes in some way to intelligence.

i haven't the slightest idea about the tecnical side of this, but i'm pretty sure lots of people confined to wheelchairs HAVE had sex.

so does this mean, at some day in the far far future, we're all going to be steven hawkings?

(well ok, very probably not, but i find the prospect, far from repelling, a VERY interesting thought!)

=^^=
.../\...

[...]most genes tend to affect multiple aspects of the body, so it's possible that this gene also contributes in some way to intelligence.

Especially as this is a gene that deals with neuron structuring...