Researchers have narrowed down the list of genes implicated in autism spectrum disorder, and they appear to point toward a part of the brain that has largely been overlooked.
Most research into the genetic roots of autism, a highly heritable disorder that affects about 1 in 68 children, starts with a kind of inventory of genes. Then, it narrows down this genome-wide survey to prime suspects that appear to be different among those with one or several of the symptoms of autism.
That gene-by-gene approach, however, has unearthed too many suspects, each with somewhat vague relationships to a small sliver of the autism spectrum. That situation has sparked some to abandon the gene-by-gene approach in favor of environmental factors that may alter gene behavior.
Whats special about autism is that it doesnt seem like its a one-gene thing, said Stanford UniversitySchool of Medicinegeneticist Michael Snyder, lead investigator of the study published online Tuesday in the journal Molecular Systems Biology.
Maybe this is a tough way to look at it, Snyder said of the gene-by-gene approach. Maybe a better way to look at it is to see what the normal biological landscape looks like, and see how people who are mutated for autism map onto that.
What followed was a complex computational task that corralled proteins into scores of modules tightly bound by their inter-related functions. Then Snyders team overlaid the map of gene variants implicated in autism.
At first glance, proteins encoded by these 383 suspect genes were scattered among many of these functional modules. But a few of the modules screamed out with autism connections, both from existing data and a genome screening the researchers conducted, Snyder said.
One module involved molecular activity that goes on all over the brain, particularly involving synapses, the tiny spaces where electrochemical signals cross for one neuron to another. This helps explain why so much autism research points toward problems with synapses.
But there was another module just as rich in autism implications, and this one implicated the corpus callosum. That thick band of fibers connects the brains two hemispheres, and its generally smaller among those with autism a disease marked by many anomalies in connectivity.
The corpus callosum is chock full of a different kind of brain cell, oligodendrocytes, which provide a sheath of insulation around the transmission lines of neurons, known as their axons. That greatly aids the propagation of electrochemical signals along the neuron. Defects in this myelin sheathing have been associated with developmentaldisorders.
Read the rest here:
Study narrows down genetic suspects in autism
- IOM not webcast today. Why Not? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- National Academies skeptical at Best. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Some Confusion Exists [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Why DTC Genomics IS Medicine. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- First Mari, Now Linda. Who's next? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Is it true? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Re-Reviewing the National Academies [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- The problem with nonclinicians....... [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Crazy Night of Emails to Government [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Adrienne Carlson's Personalized Medicine. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Tell Me, How do you feel now? Sherpa's RX [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- This Just In. 23andMe to go to GPs. I love my readers!! [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Sorry so long away [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- 2D6 Rears its ugly head..... [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Ok, Fine, Back to Plavix [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Kaiser a protoype for Collins' Aim [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- A few months late to the party.... [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Stated Another Way....... [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Excuse Me? Harvard and Navigenics? WTF? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Follow up to Yesterday's WTF? Harvard, Navi? and Pfizer??? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Did you get your kit? Thanks Dr. Rob from MedCo [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Gluco...Wha? Parkinson's Disease and Glucocerebrosidase mutations. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Away and now back, What did I miss???? 23andme layoffs? Selling Genomes for cheap up next! [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Change IS Needed. I agree with William, sometimes. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Good Enough Science? Apparently so at 23andme [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Long QT Syndrome, location matters [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- Congratulations Generation Health. Nice pick up! [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- An argument 23andSerge can't win...23andme but not medicine [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- Stop. Breathe. Repeat. An analysis of the direction of DTC Genomics Field. [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- Hey DTC genomics, Stay Private, Stay Alive, Go Public and Die [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- You can't have it both way. Either scared your genome is sold off or not. [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- 15 Days Away Gives Time for Perspective. [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- What about the SACGHS registry? Another missed opportunity? [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- AJHG is in and my Favorite Muin is in it! But He Is NOT the Father! [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- Navigenics for 23andMe prices? [Last Updated On: December 18th, 2009] [Originally Added On: December 18th, 2009]
- Lp(a) Maybe there's something there that wasn't there before? [Last Updated On: December 24th, 2009] [Originally Added On: December 24th, 2009]
- Another Year, Another Bankruptcy [Last Updated On: December 31st, 2009] [Originally Added On: December 31st, 2009]
- 5 Technologies going bye bye in this decade? [Last Updated On: January 6th, 2010] [Originally Added On: January 6th, 2010]
- Hackers, HITECH and HIPAA in DTC Genomics, Oh My! [Last Updated On: January 7th, 2010] [Originally Added On: January 7th, 2010]
- Personal Genomics Flop.....big Belly Flop! [Last Updated On: January 8th, 2010] [Originally Added On: January 8th, 2010]
- Gotta Love It. Even the daycare....... [Last Updated On: January 11th, 2010] [Originally Added On: January 11th, 2010]
- Congratulations Navigenics. You ARE a clinical lab! Uh-Oh... [Last Updated On: January 12th, 2010] [Originally Added On: January 12th, 2010]
- CETP, Jewish Centenarians and Alzheimers [Last Updated On: January 14th, 2010] [Originally Added On: January 14th, 2010]
- Enter the "Not" DTC Genomics Rep [Last Updated On: January 17th, 2010] [Originally Added On: January 17th, 2010]
- Why Dr. Vanier's Navigenics appointment is good for PM [Last Updated On: January 22nd, 2010] [Originally Added On: January 22nd, 2010]
- Holy Crap! MedCo Follows in CVS footsteps [Last Updated On: February 3rd, 2010] [Originally Added On: February 3rd, 2010]
- FDA, Warfarin, still not as sexy to me. [Last Updated On: February 5th, 2010] [Originally Added On: February 5th, 2010]
- Hype, Hype, Hype from a single study. [Last Updated On: February 11th, 2010] [Originally Added On: February 11th, 2010]
- I love my readers, even Renata M! [Last Updated On: February 17th, 2010] [Originally Added On: February 17th, 2010]
- How can insurers use DTC genomics to profile? [Last Updated On: February 17th, 2010] [Originally Added On: February 17th, 2010]
- 9p21.....ahem. Paynter et.al. Smackdown. Again. [Last Updated On: February 18th, 2010] [Originally Added On: February 18th, 2010]
- Hey! It's Pete Hulick! Are you Going to GET? [Last Updated On: February 19th, 2010] [Originally Added On: February 19th, 2010]
- I was wrong......AHEM [Last Updated On: February 28th, 2010] [Originally Added On: February 28th, 2010]
- G2C2, finally a tool for genomic education! [Last Updated On: March 2nd, 2010] [Originally Added On: March 2nd, 2010]
- Just 4 million? What 23andMe is worth. [Last Updated On: March 5th, 2010] [Originally Added On: March 5th, 2010]
- What a difference a year makes [Last Updated On: March 9th, 2010] [Originally Added On: March 9th, 2010]
- ........DTC Genomic Medicine? [Last Updated On: March 12th, 2010] [Originally Added On: March 12th, 2010]
- The FDA, 2c19 and the ACC [Last Updated On: March 13th, 2010] [Originally Added On: March 13th, 2010]
- The problem with Comparative Whole Genomics...... [Last Updated On: March 13th, 2010] [Originally Added On: March 13th, 2010]
- BRCA testing by 23andME is the same as Myriad Genetics. [Last Updated On: March 15th, 2010] [Originally Added On: March 15th, 2010]
- The Argument Against DTC Genomics Marketing and such [Last Updated On: March 16th, 2010] [Originally Added On: March 16th, 2010]
- A moment of Clarity. Some DTCG is not bad. [Last Updated On: March 18th, 2010] [Originally Added On: March 18th, 2010]
- SNPs for breast cancer risk? It Depends. [Last Updated On: March 18th, 2010] [Originally Added On: March 18th, 2010]
- How can MDVIP use Navigenics Test for Medicine? [Last Updated On: March 18th, 2010] [Originally Added On: March 18th, 2010]
- Why did P&G invest in Navigenics? [Last Updated On: March 23rd, 2010] [Originally Added On: March 23rd, 2010]
- PGx in DTCG? Doesn't stand up to Useful testing. [Last Updated On: March 25th, 2010] [Originally Added On: March 25th, 2010]
- End of Gene Patents? [Last Updated On: March 29th, 2010] [Originally Added On: March 29th, 2010]
- Sherpa Accepting Chief Medical Officership [Last Updated On: April 3rd, 2010] [Originally Added On: April 3rd, 2010]
- The Rumors of My Death........ [Last Updated On: April 20th, 2010] [Originally Added On: April 20th, 2010]
- Happy DNA Day! [Last Updated On: April 25th, 2010] [Originally Added On: April 25th, 2010]
- 99 USD, DNA day and patient letters [Last Updated On: April 25th, 2010] [Originally Added On: April 25th, 2010]
- 2C19, Navigenics and Clinical Reality. [Last Updated On: May 1st, 2010] [Originally Added On: May 1st, 2010]
- Coriell Personalized Medicine Collaborative rising [Last Updated On: May 7th, 2010] [Originally Added On: May 7th, 2010]
- Personal Genomes in Clinical Care. Quake paper is a waste! [Last Updated On: May 11th, 2010] [Originally Added On: May 11th, 2010]
- Personal Genomes in Clinical Care. Quake paper Falls Short! [Last Updated On: May 13th, 2010] [Originally Added On: May 13th, 2010]
- Last post edited by Drew [Last Updated On: May 13th, 2010] [Originally Added On: May 13th, 2010]
- GateKeeper? FCUK U! [Last Updated On: May 13th, 2010] [Originally Added On: May 13th, 2010]
- GateKeeper? F! U! [Last Updated On: May 15th, 2010] [Originally Added On: May 15th, 2010]
- Potential of genomic medicine, LOST [Last Updated On: May 19th, 2010] [Originally Added On: May 19th, 2010]
- How Bad Can a House Investigation be for DTC Genomics? [Last Updated On: May 20th, 2010] [Originally Added On: May 20th, 2010]