Jackson researchers identify essential factors in brain organization

[mzmolly]

A Jackson Laboratory research team led by Associate Professor Robert Burgess has shown that two proteins, called DSCAM and DSCAML1, are essential to the proper arrangement (what scientists call "mosaicism") of neuronal circuits in the retina. The finding could light the way to understanding a wide range of neurodevelopmental defects.

...

In research published in the journal Neuron, Burgess and his colleagues show that in the absence of DSCAM, retinal neurons do form synapses, but they clump together without the regular spacing needed to ensure an absence of gaps in the brain circuitry. In other parts of the brain, such clumping could underlie a number of disorders, including Tourette's syndrome and Down syndrome--in fact, DSCAM stands for "Down syndrome cell adhesion molecule."

...

Studying a mouse that doesn't produce DSCAML1, the scientists realized that the protein is the nonstick "stuff" that prevents brain cells -- in this case, retinal neurons -- from clumping together like overcooked spaghetti. Burgess says that the retina, with its well-understood structures, "is a great place to start, because we have all the 'labels' or markers and know where to look," Burgess says. "What we've shown in the retina provides a new way to look for neuro-developmental disorders elsewhere in the brain, in animal models and human patients."

Burgess notes that DSCAML1 maps to a region of the human genome that is associated with Tourette's syndrome, and adds that too much or too little DSCAM or DSCAML1 could turn out to have a role in many other disorders such as Down syndrome, autism and schizophrenia.

"What these disorders share is that there's nothing really grossly wrong with the brain -- all the major parts are there and are more or less connected the way they should be, with some minor abnormalities. Now we can start to investigate specific individual cell types in the brain and ask whether they're properly spaced, as a first step to understanding syndromes associated with those cell types."

The paper: Fuerst et al.: DSCAM and DSCAML1 function in self-avoidance in multiple cell types in the developing mouse retina. Neuron 64, 484-497, November 25, 2009.

LINK ~ http://insciences.org/article.php?article_id=7783

It would be interesting if eye exams could ultimately assist in the diagnosis of various disorders.

[gateley]

1. Interesting -- thanks. nt

[HuckleB]

2. Good stuff. Thanks.

:hi:

Of course, I now have the Johnny Cash/June Carter song (Jackson) running around my head.

[mzmolly]

3. LOL

http://www.youtube.com/watch?v=nzhzCF77GDo

Could be worse. ;)

[JDPriestly]

4. That idea (that some diseases can be diagnosed from the eye) has been around for some time.

A French doctor published something on this back in the late 1970s. Sorry can't help you more with information on where the article was published.

[mzmolly]

5. Very interesting.

:hi: