Spontaneous gene glitches linked to autism risk with older dads

NIH News ^ | April 4, 2012 | NA

[neverdem]

Non-inherited mutations spotlight role of environment – NIH-supported study, consortium

Researchers have turned up a new clue to the workings of a possible environmental factor in autism spectrum disorders (ASDs): fathers were four times more likely than mothers to transmit tiny, spontaneous mutations to their children with the disorders. Moreover, the number of such transmitted genetic glitches increased with paternal age. The discovery may help to explain earlier evidence linking autism risk to older fathers.

The results are among several from a trio of new studies, supported in part by the National Institutes of Health, finding that such sequence changes in parts of genes that code for proteins play a significant role in ASDs. One of the studies determined that having such glitches boosts a child’s risk of developing autism five to 20 fold.

Taken together, the three studies represent the largest effort of its kind, drawing upon samples from 549 families to maximize statistical power. They reveal sporadic mutations widely distributed across the genome, sometimes conferring risk and sometimes not. While the changes identified don’t account for most cases of illness, they are providing clues to the biology of what are likely multiple syndromes along the autism spectrum.

"These results confirm that it’s not necessarily the size of a genetic anomaly that confers risk, but its location – specifically in biochemical pathways involved in brain development and neural connections. Ultimately, it’s this kind of knowledge that will yield potential targets for new treatments," explained Thomas, R. Insel, M.D., director of the NIH’s National Institute of Mental Health (NIMH), which funded one of the studies and fostered development of the Autism Sequencing Consortium, of which all three groups are members.

Multi-site research teams led by Mark Daly, Ph.D., of the Harvard/MIT Broad Institute, Cambridge, Mass., Matthew State, M.D., Ph.D., of...

[neverdem]

de novo mutations revealed by whole-exome sequencing are strongly associated with autism

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Patterns and rates of exonic de novo mutations in autism spectrum disorders

[neverdem]

Ping

[dr_lew]

While the changes identified don’t account for most cases of illness ...

Stop right there.

[bruinbirdman]

Didn't have a diagnosis? It was Lhasa fever.

Then ADHD put millions on SSI and disability.

Now autism is disability of the day.

What happened to plain old depression and Valium?

yitbos

[crazyhorse691]

Having adopted 2 boys with the same mother/father, born under the same environmental influences, my having a MS in genetics, and having worked with Special Olympics over the last 15 years... my conclusion is that the experts are all full of salt. At this time there is no one theory that can explain the wide range of differences/abilities found in autistic children...and how some can actually show signs of development over time while others lag behind or remain static.

[matthew fuller]

Very interesting- I heard Monday on Fox News that autism has a positive correlation with obese (during pregnancy) mothers.

[neverdem]

Stop right there.

What kind of doctor are you? I doubt a physician or Ph.D. in genetics. They have detected loads of mutations in even single types of cancer, which is no single disease.

[neverdem]

Having adopted 2 boys with the same mother/father, born under the same environmental influences, my having a MS in genetics, and having worked with Special Olympics over the last 15 years... my conclusion is that the experts are all full of salt. At this time there is no one theory that can explain the wide range of differences/abilities found in autistic children...and how some can actually show signs of development over time while others lag behind or remain static.

Since you have a MS in genetics, when did you get it, and are you still working in genetics and up to date? Austistic Spectrum Disorder is more like cancer, both are loaded with mutations, even single types of cancer.

[bruinbirdman]

". . . . mutations spotlight role of environment "

Another flag. Stop fracking!!

yitbos

[Dengar01]

Am I the only one who immediately thinks of Battlestar Galactica when the word "fracking" is used?

The whole episode of "The Five" I kept wanting to start binge watching BSG every time they said the word "fracking"

[crazyhorse691]

Why? Have you got an agenda that you wish to push????

[mrsadams]

I read an article about Isreal doing this same type of study with similiar results over 5 years ago. Since people are now having children when they are older, it would make sense that that would be a reason why the cases of autism are rising.

Plus, every time they change the parameters of what autism consists of, the number of cases will change.

[Sherman Logan]

As we learn more about the inheritance of disease and other factors, I suspect these issues will become more prominent.

DNA can be degraded, just as a computer program can. Depending on where the flaws are, a small flaw can produce a minor problem or a huge one.

There is also the issue of implementation. DNA is a set of directions for a complex process. Let’s compare it to building a house, also a complex process.

DNA is like the full set of plans. If when the house is built it leaks, is it always because the plans are faulty? Nope, more commonly it is a failure to properly follow the plans.

With people and other living things, the DNA may be in perfect shape, but the “assembly” process may not be properly implemented. Resulting in flaws such as the autism/Aspergers spectrum, homosexual tendencies, etc/

Thus it is quite possible for problems to be inborn without their being genetic.

[netmilsmom]

I believe that Autism is linked to three things, genes in some cases, environment in some cases (ever notice a huge uptick in Autism with the advent of 24 hour kids tv?) and the amount of cash the diagnosis can bring a school.

The last is not PC to say because of the first two.
Say to any group that you believe the “Autism Card” is played sometimes and those with kids with real Autism become offended.

What they don’t realize is that more money could be spent on the real cases if the “Card” cases would be eliminated.

[freeangel]

“Since people are now having children when they are older, it would make sense that that would be a reason why the cases of autism are rising.”

There are also more premature babies that were kept alive by “artificial” means and more induced premature delivery/C-section dates done for convenience. Along with schools getting more money for each expanded autism “diagnosis”, I can’t say I feel comfortable with any of the findings the government would like us to believe.

[neverdem]

Why? Have you got an agenda that you wish to push????

I've studied genetics and neurology among other courses in med school, and I like the physical sciences too. You could call me a science junkie. But this is not junk science.

[crazyhorse691]

I am impressed with your interdisciplinary background and your apparent ability to separate junk science from real science...but, remember that skepticism is the hallmark of true science. Genetic mutations is but one possible/probable answer to the autism disorder that can get royally messed up when you factor in the environmental, sociological, psychological, funding, and schooling factors. Add in alcohol/drug/emotional/physical abuse during pregnancy and early childhood development and you can’t believe that anybody can turn out normal like us.