Research Probes Autism’s Origins in the Brain

THURSDAY, Nov. 21, 2013 (HealthDay News) — Two research teams say they have pinpointed how changes in genes linked to autism act together to disrupt normal brain development.

Their studies, published Nov. 21 in the journal Cell, represent a leap forward in understanding the complex condition, said an expert who was not involved with the research.

"This gives us a moment in time when genetic risk for autism actually gets put into motion," said Robert Ring, a neuroscientist and chief science officer for the nonprofit advocacy group Autism Speaks. "This is very important."

That two research groups looking at different sets of genes came to the same conclusion “gives a lot of validity to the finding,” Ring said.

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Autism — which impairs the ability to communicate, regulate behavior and relate to others — is thought to affect about 1 in 88 children in the United States.

The mutations appear to come into play in mid-pregnancy. They interrupt the formation of specific cells that connect brain layers in a region that controls movement, sensory perception, conscious thought and language.

The changes appear to cause a sort of faulty wiring of the brain before birth, the researchers said.

They also said their findings might explain why early intervention programs, which enroll kids as young as 1 year old, help children with autism. Since their brains are still developing, they might be capable of correcting or compensating for some of these bad connections.

For both studies, researchers took advantage of BrainSpan atlas, an ambitious public project to catalog the gene makeup of the brain at many different ages. The brains used in the project are from 57 healthy, deceased males and females. Their ages ranged from six weeks after conception to 82 years old.

The work is groundbreaking, said one expert.

"This is something we couldn’t have done two years ago because we didn’t have this dataset," said Jeremy Willsey, a graduate student in genetics at Yale University.

Willsey led one of the studies, in which researchers focused on rare “lightning strike” mutations that caused a loss of function in nine genes. These mutations are changes to DNA that occur randomly, and aren’t passed from parent to child. But previous studies have shown that individuals with autism often share these same random mutations.

Focusing on the actions of these nine genes, the researchers checked the BrainSpan atlas to see if any were working together at the same time. They found that those genes and others associated with autism worked together at only three distinct places and periods in development. Those corresponded to the deeper layers of the front of the brain between 10 and 24 weeks after conception.

The gene mutations seem to interfere with the development of nerve cells that connect different brain regions.

"We know there’s a disruption in the cells’ development, but we don’t know much more than that," Willsey said. "That’s sort of the next step that our lab is addressing. That’s what’s going to help you progress toward treatment."

For the other study, researchers at the University of California, Los Angeles, took a different approach.

Using the BrainSpan data, they first looked at gene expression in normal brains from eight weeks after conception through 12 months of age. They then mapped hundreds of genes shared by individuals with autism and determined when and where those genes were active in the developing brain. Strikingly, although there were many autism risk genes, they all acted together at just a few points in brain development.

The researchers also compared the activity of autism risk genes to the genes involved in intellectual disability, or low I.Q. Although the conditions share many of the same risk genes, the study found that they were active in different ways at different times, adding more proof that the two conditions are distinct.

Their findings also pointed to a disruption in the brain’s wiring, probably because of an error in the development of the brain-connecting nerve cells.

The researchers stressed, however, that the findings probably don’t explain all cases of autism.

"These gene mutations definitely contribute to autism in some people," said Neelroop Parikshak, a graduate student at the University of California, Los Angeles, who led the second study. "[But] we don’t know how much in a given individual."

Willsey agreed. He said that for the first time, however, these studies show the genetics of autism in action, something that should speed the path to better treatments.

"We feel this is a turning point," he said. "We’re taking these genes and being able to tie them to a specific time point and a specific region in the brain, which really allows us to take the next step and follow this up in more detail. It’s very exciting."

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Credit GOP for the first official turkey excuse

The presidential pardon of the Thanksgiving turkey has become an annual event, but the peace pact between the fowl and the White House is a relatively new thing. And in fact, a few presidents actually ate their guests!

The first president to unofficially pardon a turkey was Abraham Lincoln, who instructed the White House to save a bird given to the president. Lincoln’s son had grown fond of the bird (and the president was a big animal lover).

But Lincoln didn’t start a tradition, and neither did President Harry S. Truman, who is often credited as the father of the presidential turkey pardon.

Since Lincoln’s time, there had been a steady parade of turkeys heading to the White House as the entree for the President’s holiday dinner. Horace Vose of Rhode Island provided many of the birds, starting with President Grant and ending with President Wilson.

Photos from Truman’s administration show the president happily receiving a turkey as a gift from the Poultry and Egg National Board at a public event. News:

An article that later appeared in The Washington Post revealed the real reason the men were smiling: They  as the main course! In one image from Time magazine, Eisenhower is grinning widely as he’s carving a very large turkey.

John F. Kennedy then started a trend by publicly sparing a turkey given to the White House. He decided after receiving a bird on November 19, 1963, that it shouldn’t stay as dinner. The turkey was wearing a sign that said, “Good Eatin’ Mr. President.” JFK spared the bird just three days before he was assassinated in Dallas.

Lyndon Johnson, Richard Nixon, Gerald Ford, and Ronald Reagan were all photographed at turkey press conferences with their guests of honor. It’s not 100 percent known if any of the birds survived their White House tour–without being stuffed, dressed, and served on a platter.

Reagan joked about pardoning a turkey during the days of the Iran-Contra affair, but the bird was already scheduled to live out its life at a zoo.

It was President George H.W. Bush who made the turkey pardon official when he took office in 1989.

Since then, turkeys across the United States have rejoiced, at least one day a year, as the leaders have spared a lucky bird from the Thanksgiving table.

But the turkeys, who are bred to be eaten, have a very short life span. The National Turkey Federation, which raises birds for the presidential pardon ceremony , says a pardoned bird will be lucky to live two years after it’s saved by the president.

Part of the confusion over the origin of the turkey pardon came from statements made by President Bill Clinton, who said the pardon as a tradition started with Lincoln and Truman.

It’s true Lincoln did a one-time turkey pardon, but Truman aficionados say there’s little evidence the president spared his birds.

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Dog’s best friend: NH guy helps pet shelters

CONCORD, N.H. (AP) — Lyman Pope loves dogs. All dogs. And cats. And, maybe most of all, animal shelters that care for those pets.

Pope is 85, retired from the real estate business where he made a lot of money. Now he’s spreading hundreds of thousands of dollars for construction, improvements and other expenses on animal shelters bearing his name in Maine, Vermont and, soon, New Hampshire.

The newest, a 7,700-square-foot SPCA shelter on Concord’s south end, is under construction, and Pope — and his 100-pound German shepherd Max — stopped by on Wednesday to check on progress. He donated $525,000 toward construction of the shelter, nearly pushing the SPCA over the top of its $2 million goal. The gift also includes an additional $500,000 that the SPCA will receive after his death.

Other recipients of Pope’s generosity are the Pope Memorial Humane Society of Knox County, Maine, and the Pope Memorial Frontier Animal Shelter in Orleans, Vt. The Knox County group announced last week that Pope would match all capital campaign donations received by the end of the year, up to $100,000. If the full amount is raised, it’ll put $1 million in the bank toward the shelter’s goal of $2.2 million to build a new facility.

"Lyman has been wonderful," said Betsy Hampton, a board member at the Frontier shelter in Vermont. "He is really the one and only person that has been with our shelter since the very beginning."

Dogs — specifically German shepherds — were always a part of his life, but Pope came late to philanthropy. He grew up in Haverhill, an industrial town on the Connecticut River. And at 45, with just $17,000 on hand, his mother loaned him $22,000, and he bought a manufactured home park in Somersworth. One of his two sons still owns the park.

"I made my money in real estate, and I’ve been spending it as fast as I could ever since," he said.

Pope, who owns a home in Jackson, N.H., and rents another in Ogunquit, Maine, started visiting shelters around 1999 and was dismayed at the number of abandoned or abused animals he saw. And when an earlier German shepherd — also named Max — died from Lyme disease a few years later, Pope began to use his wealth to help out. For the past six years, his new Max has been a constant traveling companion on his visits.

"If you care about dogs, you know once they arrive at an animal shelter, they’re in some trouble," he said. "The shelters are always in trouble. They never have enough money. It doesn’t take long to become empathetic, very sympathetic, because it’s a difficult thing for the people who manage them and for the animals who are in there."

Pope has noticed a spike in rescue animals that are brought by volunteers to New England, where the shelters have a high rate of adoption. These transport drives serve two purposes, Pope said. People connect to the plight of the relocated puppies and kittens then get exposed to the older pets already at the shelter, leading to more adoptions.

"It’s good business, he said. "If they get 25 puppies in Kennebunk, people line up on the sidewalk. Then they look at these other local dogs."

Tracy Sala is the executive director of the Humane Society shelter in Maine and said Pope offers much more than just financial support.

"He has been to all these shelters, and he knows what works and what doesn’t work," she said. "He tells you what you’re doing well and where you can improve, so he has raised the bar. He’s been walking the walk for so long, and you’d be foolish not to listen to him."