4 ms·

Tiny Variation in One Gene May Have Led to Crucial Changes in Human Brain

22 points by espeed 15y ago

freesciencenow 15y ago
Paywalls for scientific research are evil. Here's a copy of the paper: http://209.20.67.195/misc/lamc3.pdf http://209.20.67.195/misc/lamc3.pdf (See my profile for why I do what I do.)
stcredzero 15y ago
These fissures expand the surface area of the cerebral cortex and allow for complex thought and reasoning without taking up more space in the skull. Such foldings aren’t seen in mammals such as rodents or other animals. So, maybe this is just a gene which will enable a real life "Secret of NIMH?" How folded are parrot brains? They've always struck me as being very smart for their size.
jessedhillon 15y ago
> ...the Yale School of Medicine and Turkey... Medicine and Turkey, that's an interesting area of study!
saulrh 15y ago
Fox publishes some of the most sensationalistic science reporting I have ever seen. The paper itself is an extremely interesting result, since it provides some information about the folds in our brain (as Gunel is quoted as saying at the bottom of the article), but Fox's story is an insane distortion. First, the only thing they're reporting on is a link between changes in LAMC3 and " complex bilateral occipital cortical gyration abnormalities". They make no mention of intelligence. In the conclusion the scientists draw parallels between this finding and the unpredictability of other genes that work on the same structures, with the intent of highlighting how little we understand about the relation between genetics and neurology. Second, the scientists identified a grand total of four individuals out of a population of over 1000 that was already relatively at-risk. This is barely twice the incidence of Down Syndrome, and certainly not a large enough sample size to make any conclusions, especially about something as ill-defined as intelligence. Third, both of the test subjects mentioned in detail had average intelligence. One had minor neurological issues. There is no data to support the headline or the reporting. [edit: I may have found this from a different source or the link may have been changed. This post was in response to a Fox News story about the same paper, not the Yale press release.]
- Natsu 15y ago
  I think they swapped the link and changed the title. Both changes were huge improvements.
Stormbringer 15y ago
folds would increase the surface area at the expense of a small amount of volume... Why would increasing the surface area increase intelligence? Is it to increase the amount of contact with the surrounding medium? (Fluid?) I thought current ideas about intelligence were about the number of connections between neurons?
jforman 15y ago
I am curious why they call the variation "tiny." The mutation they describe is "the deletion of two genetic letters" — since genes are read in groups of three, a deletion of two letters results in a completely different protein after the site of the mutation (called a "frameshift" mutation because of this property). It seems as if they're trying to cast the result as somehow surprising, when it isn't (this aspect of it, at least).

22 points by espeed 15y ago

Paywalls for scientific research are evil. Here's a copy of the paper: http://209.20.67.195/misc/lamc3.pdf http://209.20.67.195/misc/lamc3.pdf (See my profile for why I do what I do.)

stcredzero 15y ago

These fissures expand the surface area of the cerebral cortex and allow for complex thought and reasoning without taking up more space in the skull. Such foldings aren’t seen in mammals such as rodents or other animals. So, maybe this is just a gene which will enable a real life "Secret of NIMH?" How folded are parrot brains? They've always struck me as being very smart for their size.

jessedhillon 15y ago

> ...the Yale School of Medicine and Turkey... Medicine and Turkey, that's an interesting area of study!

saulrh 15y ago

Fox publishes some of the most sensationalistic science reporting I have ever seen. The paper itself is an extremely interesting result, since it provides some information about the folds in our brain (as Gunel is quoted as saying at the bottom of the article), but Fox's story is an insane distortion. First, the only thing they're reporting on is a link between changes in LAMC3 and " complex bilateral occipital cortical gyration abnormalities". They make no mention of intelligence. In the conclusion the scientists draw parallels between this finding and the unpredictability of other genes that work on the same structures, with the intent of highlighting how little we understand about the relation between genetics and neurology. Second, the scientists identified a grand total of four individuals out of a population of over 1000 that was already relatively at-risk. This is barely twice the incidence of Down Syndrome, and certainly not a large enough sample size to make any conclusions, especially about something as ill-defined as intelligence. Third, both of the test subjects mentioned in detail had average intelligence. One had minor neurological issues. There is no data to support the headline or the reporting. [edit: I may have found this from a different source or the link may have been changed. This post was in response to a Fox News story about the same paper, not the Yale press release.]

Natsu 15y ago
I think they swapped the link and changed the title. Both changes were huge improvements.

Stormbringer 15y ago

folds would increase the surface area at the expense of a small amount of volume... Why would increasing the surface area increase intelligence? Is it to increase the amount of contact with the surrounding medium? (Fluid?) I thought current ideas about intelligence were about the number of connections between neurons?

jforman 15y ago

I am curious why they call the variation "tiny." The mutation they describe is "the deletion of two genetic letters" — since genes are read in groups of three, a deletion of two letters results in a completely different protein after the site of the mutation (called a "frameshift" mutation because of this property). It seems as if they're trying to cast the result as somehow surprising, when it isn't (this aspect of it, at least).