Fishing for answers to autism puzzle

ScienceDaily (June 19, 2012) ? Fish cannot display symptoms of autism, schizophrenia, or other human brain disorders. However, a team of Whitehead Institute and MIT scientists has shown that zebrafish can be a useful tool for studying the genes that contribute to such disorders.

Led by Whitehead Member Hazel Sive, the researchers set out to explore a group of about two dozen genes known to be either missing or duplicated in about 1 percent of autistic patients. Most of the genes' functions were unknown, but a new study by Sive and Whitehead postdocs Alicia Blaker-Lee, Sunny Gupta and, Jasmine McCammon, revealed that nearly all of them produced brain abnormalities when deleted in zebrafish embryos.

The findings, published online recently in the journal Disease Models & Mechanisms, should help researchers pinpoint genes for further study in mammals, says Sive, who is also professor of biology and associate dean of MIT's School of Science. Autism is thought to arise from a variety of genetic defects; this research is part of a broad effort to identify culprit genes and develop treatments that target them.

"That's really the goal -- to go from an animal that shares molecular pathways, but doesn't get autistic behaviors, into humans who have the same pathways and do show these behaviors," Sive says.

Sive recalls that some of her colleagues chuckled when she first proposed studying human brain disorders in fish, but it is actually a logical starting point, she says. Brain disorders are difficult to study because most of the symptoms are behavioral, and the biological mechanisms behind those behaviors are not well understood, she says.

"We thought that since we really know so little, that a good place to start would be with the genes that confer risk in humans to various mental health disorders, and to study these various genes in a system where they can readily be studied," she says.

Those genes tend to be the same across species -- conserved throughout evolution, from fish to mice to humans -- though they may control somewhat different outcomes in each species.

In the latest study, Sive and her colleagues focused on a genetic region known as 16p11.2, first identified by Mark Daly, a former Whitehead Fellow who discovered a type of genetic defect known as a copy number variant. A typical genome includes two copies of every gene, one from each parent; copy number variants occur when one of those copies is deleted or duplicated, and this can be associated with pathology.

The central "core" 16p11.2 region includes 25 genes. Both deletions and duplications in this region have been associated with autism, but it was unclear which of the genes might actually produce symptoms of the disease. "At the time, there was an inkling about some of them, but very few," Sive says.

Sive and her postdocs began by identifying zebrafish genes analogous to the human genes found in this region. (In zebrafish, these genes are not clustered in a single genetic chunk, but are scattered across many chromosomes.) The researchers studied one gene at a time, silencing each with short strands of nucleic acids that target a particular gene and prevent its protein from being produced.

For 21 of the genes, silencing led to abnormal development. Most produced brain deficits, including improper development of the brain or eyes, thinning of the brain, or inflation of the brain ventricles, cavities that contain cerebrospinal fluid. The researchers also found abnormalities in the wiring of axons, the long neural projections that carry messages to other neurons, and in simple behaviors of the fish. The results show that the 16p11.2 genes are very important during brain development, helping to explain the connection between this region and brain disorders.

Furthermore, the researchers were able to restore normal development by treating the fish with the human equivalents of the genes that had been repressed. "That allows you to deduce that what you're learning in fish corresponds to what that gene is doing in humans. The human gene and the fish gene are very similar," Sive says.

To figure out which of these genes might have a strong effect in autism or other disorders, the researchers set out to identify genes that produce abnormal development when their activity is reduced by 50 percent, which would happen in someone who is missing one copy of the gene. (This correlation is not seen for most genes, because there are many other checks and balances that regulate how much of a particular protein is made.)

The researchers identified two such genes in the 16p11.2 region. One, called kif22, codes for a protein involved in the separation of chromosomes during cell division, and one, aldolase a, is involved in glycolysis -- the process of breaking down sugar to generate energy for the cell.

In work that has just begun, Sive's lab is working with Stanford University researchers to explore in mice predictions made from the zebrafish study. They are also conducting molecular studies in zebrafish of the pathways affected by these genes, to get a better idea of how defects in these might bring about neurological disorders.

This research was funded by the Simons Foundation Autism Research Initiative.

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The above story is reprinted from materials provided by Whitehead Institute for Biomedical Research. The original article was written by Anne Trafton.

Note: Materials may be edited for content and length. For further information, please contact the source cited above.

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Journal Reference:

1. Blaker-Lee A, Gupta S, McCammon JM, Derienzo G, Sive H. Zebrafish homologs of 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. Dis Model Mech., 2012 [link]

Note: If no author is given, the source is cited instead.

Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.

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Who Are Your Favorite Science, Technology, Engineering and Math Youtubers?

This is a follow up to my last post about Science Video Brainstorming.

Thank you everyone who has kindly donated toward my trip to VidCon 2012! I have enough for a plane ticket! Please continue your generous donations in any amount so I can have a place to stay and food to eat! Recall that I have levels of thanks which range from a huge thanks in my social media, hunting down your favorite youtuber for an autograph, to a mini ad/shoutout in one of my videos all the way to making a custom science video for you or a loved one! I am currently researching one on the eponymously named structures in neuroscience for a donor already!)

If you can help out, I have a paypal button on my website or you can contact me if you cannot stand to use paypal.

As a reminder, my goal is to get to VidCon2012 so I can interview as many science, technology, engineering and math video makers, ones that I may not even be aware of, and share these great finds with you! I truly appreciate your assistance!

My favorite video makers include Bill Hammack, The Engineer Guy, the wonderful Jeri Ellsworth, Periodic Videos, Professor Dave at York and NurdRage. Enjoy videos from the last three on the list (and link to their sites) at my post ?Have Some Coke?and Some Chemistry!?

So, to choose whom I should interview, I?d love to know your favorite science, engineering, technology and math video makers!

This is an exciting time for science in new media!

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(Dis)United States of Sleep: U.S.-Born Americans' Sleep Patterns Differ from Those of Immigrants

Features | Health

An ability to get the right amount of shut-eye each night differs depending on race, ethnicity and your birthplace

By Charles Q. Choi ?| June 18, 2012?|

Image: Flickr/theqspeaks

Sleep should be the great equalizer. Whatever differences might divide us during the day, the nonconsciousness that comes with nighttime should be one thing we all have in common.

It ain't necessarily so. Scientists have now found significant differences exist in how people sleep in the U.S. depending on race, ethnicity and country of origin, suggesting genetic or cultural differences in shut-eye patterns. This line of research could help identify how these disparities might affect health and find better ways to improve sleep.

One study looked at sleep data gathered from more than 430,000 people in the U.S. between 2004 and 2010 as part of the National Health Interview Surveys, which the U.S. Centers for Disease Control and Prevention conducts annually to monitor the country's well-being. They found that foreign-born respondents were generally more likely to sleep the recommended healthy six to eight hours each night as compared with native-born Americans.

"This study is particularly interesting, because it goes to show that the unhealthy American lifestyle includes more than a poor diet and lack of exercise?it also means unhealthy sleep patterns, and this can lead to important health consequences," says sleep researcher Michael Grandner at the University of Pennsylvania, who did not take part in this research. "It seems like foreign-born Americans may be protected by not adopting this unhealthy lifestyle."

Past research suggests that habitually sleeping less or more than the recommended six to eight hours for adults can be linked to certain higher health risks, such as cardiovascular disease, diabetes, obesity, stroke, cancer and accidents as well as instances of mental disorders such as depression. These findings regarding sleep disparities "can help us understand not only who to target for improving sleep with the aim of improving health, but it can help us identify the social and environmental influences on sleep, which might be modifiable," Grandner says. Unlike many other foreign-born persons, African-born Americans were more likely to report sleeping six hours or less, suggesting that helping them find more sleep could help them with other health issues, says the study's lead author Abhishek Pandey, a sleep researcher at the State University of New York Downstate Medical Center.

Another study analyzed 439 volunteers in the Chicago Area Sleep Study, a randomly selected, racially diverse sample of Chicago adults who donned wrist sensors that measured how long they slept each night for a week and answered surveys about sleep quality and daytime drowsiness. Researchers found that white participants on average slept about 30 minutes longer than other ethnic groups whereas blacks reported the worst sleep quality and Asians claimed to be the most sleepy during the day.

These disparities apparently represent normal experiences, and not underlying sleep disorders, says the study's lead author Mercedes Carnethon, an epidemiologist at Northwestern University. For instance, these differences persisted even after statistically adjusting for cardiovascular disease risk factors that researchers already know are linked with poor sleep, such as body mass index, high blood pressure and diabetes. The scientists also excluded people who had evidence of mild to moderate sleep apnea, a disorder that causes abnormal pauses in breathing during sleep.

"These studies show very clearly that when, how and how much you sleep is partially determined by who you are and where you come from," Grandner says. Pandey, Carnethon and their colleagues detailed their findings June 13 at the annual meeting of the Associated Professional Sleep Societies in Boston.

Differences in sleep patterns might stem from genetic and anatomical variations between groups. For instance, past research suggests blacks and whites might sleep differently because of disparities in inflammation responses and that various groups might display distinctive the structure in their airways, influencing how they breathe during sleep, Pandey says.

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Activists closely watching suit over L.A. Zoo's elephant exhibit

To the man suing the city of Los Angeles over how its zoo treats elephants, Billy endures a miserable existence.

The Asian elephant has spent much of his 27 years at the zoo in Griffith Park. He's now overweight and plagued by cracked toes and weary joints, plaintiff Aaron Leider alleged in court documents. Billy bobs his head for hours, which some experts say is a sign of emotional turmoil, and he's sexually frustrated for months at a time.

Billy's maladies ? and what may have caused them ? will be debated at length this week in a trial that began Monday in downtown Los Angeles. Leider blames the zoo's exhibit, "Elephants of Asia," for its occupants' ailments and is seeking to shut it down.

The long-running lawsuit has been closely watched in the animal rights community, as testimony could potentially embarrass city officials who signed off on the $42-million exhibit. Critics say the space is too small and the ground too hard for its three occupants: Billy, Tina and Jewel.

City attorneys scoffed at the accusations. The exhibit meets the standards of both the U.S. Department of Agriculture and the Assn. of Zoos and Aquariums, they said, and was designed to keep the elephants comfortable, down to a heated barn floor.

"The evidence will show that the elephants at the exhibit are pampered, they are protected, they well cared for and, yes, they are loved. They are loved by their handlers at the Los Angeles Zoo," Deputy City Atty. John Carvalho said.

In Los Angeles, the care of elephants has long been a political lightning rod. Some animal welfare advocates contend that elephants, who roam for up to 18 hours a day in the wild, will inevitably grow depressed in captivity.

The issue first came to Leider's attention in 1992, when an African elephant named Hannibal died as zoo officials were preparing to move him to Mexico. Leider joined protests against the confinement of elephants, and in 2007 he and actor Robert Culp filed a lawsuit against the city and its zoo director, John Lewis.

In the years it took for the suit to reach trial, Culp died and the zoo rejected an offer of land for a sprawling elephant sanctuary, said plaintiff's attorney David Casselman. In 2010, the zoo opened its new elephant habitat: more than three acres of trees and water holes.

Leider said the space not only was inadequate, but it continued a pattern of the zoo treating the elephants as "fungible chattel." In the last four or so decades, 14 of its elephants have died, he said in court papers.

City attorneys countered that Leider, a real estate agent, is anti-zoo and intends to use the court proceedings as a bully pulpit to publicize his views.

The trial is expected to last five days, with Los Angeles County Superior Court Judge John L. Segal issuing a ruling some time after.

If the first day is any indication, testimony will suggest an introductory course in animal behavior. For example, Carvalho pressed a plaintiff's expert as to whether Billy's head-bobbing truly signaled emotional distress. (The expert said yes.)

There was also extensive debate as to whether the elephant exhibit is large enough and varied enough to keep the animals engaged, and whether its sandy soil is soft enough to cushion the elephants' joints and feet.

Casselman said the exhibit failed on both counts. He compared housing elephants in such a space to stuffing a "blue whale in the equivalent of a goldfish bowl," and showed multiple photos of Billy's cracked nails.

He also alleged that the animals were poorly cared for, with Tina and Jewel, on loan from the San Diego Zoo, suffering from too little exercise. The former circus elephants are at least a decade older than Billy and had endured foot problems and dental surgery before arriving in L.A.

The defense suggested that the animals' ailments were the natural results of aging. Carvalho also said there was no indication that transferring the elephants to a sanctuary, as some activists have suggested, would actually improve their living conditions.

And he offered a far different picture of how the elephants are treated: with carrot-tossing games and daily "elephant pedicures." The elephants are never physical punished, he said. The zoo also keeps an animal psychiatrist on hand.

"If only people were treated so well," Carvalho said.

ashley.powers@latimes.com

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Video: Rich Baby-Boomers: Forget the Inheritance!

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Greek election will weigh on Wall Street

?

By Caroline Valetkevitch, Reuters

Updated 3:46 p.m. EDT: NEW YORK --?In addition to backyard barbecues and beer, this Father's Day could see many investors with their minds on Greece.?

The Greek election -- the Sunday event that has the attention of the world's financial markets -- is expected to create volatility in the new trading week, in particular, for U.S. stocks, according to analysts and investors.?

"I think the S&P futures will see their high or low depending on the outcome within one hour of the futures' opening on Sunday night at 6 p.m. Eastern time," said Elliot Spar, an options market strategist at Stifel Nicolaus & Co.?

The pro-bailout New Democracy party came in first Sunday and could gather enough support to form a pro-bailout coalition to keep the country in the euro?zone.

Analysts have viewed the Greek election as a potential turning point for Greece, with all eyes on whether voters would favor the leftist Syriza party opposed to the austerity measures that are part and parcel of Greece's international bailout package, or the conservative New Democracy, which ?committed to upholding terms of that agreement.?

The election?is also seen as another hurdle for the wider euro zone, which has been embroiled in a debt crisis for well over a year.?

Central banks from major economies are ready to take steps to calm financial markets should the outcome of the Greek elections create a market storm.?

A more bearish outcome would be one that presages an unraveling of the euro zone, said Peterson, whose firm starting reducing its exposure to European assets "over a year and a half ago."

The rest of the week is not likely to be any quieter. The Federal Reserve is due to release a policy statement on Wednesday at the end of its two-day meeting, and the steady flow of sovereign debt warnings and downgrades is likely to continue.

In yet another sign of investor nervousness, the CBOE Volatility index, Wall Street's fear gauge, was up for much of Friday, even as stocks rose, although the VIX finally closed lower. Stocks and the VIX typically have an inverse relationship.

Many investors have been trying to prepare for the worst.

"People have been hedging their positions aggressively over the past two weeks heading into this weekend," said Alec Levine, a derivatives strategist at Newedge Group SA in New York.

"No matter what happens (this) week, we will return to a massive game of chicken between the newly elected Greek government, whoever that may be, and the EU, specifically Germany."

Despite the fears, stocks ended the week on a positive note, marking a second straight week of gains. The benchmark Standard & Poor's index is now up 6.8 percent for 2012, though still well off its highest levels of the year.

Part of what has spurred optimism for stock investors in recent weeks has been the hope that the Fed and other central banks would act to provide more economic stimulus. There has been continuing speculation over whether the Fed will engage in a third round of quantitative easing.

"We do think that expectations of QE3 will drive the market one way or the other," said Omar Aguilar, chief investment officer for equities at Charles Schwab Corp, in San Francisco.

But the fact that the Fed has made no recent changes to policy could mean the economic data policymakers are seeing is "not as bad as everyone thinks," Aguilar said.

Weeks of worries over potential outcomes of the Greek election have prompted a number of central banks to prepare for market problems.

Among them, European Central Bank President Mario Draghi said the ECB was ready to step in and fund any viable euro zone bank that gets in trouble. The Bank of England on Thursday announced a $155 billion (100 billion pound) offer of loans to banks.

Also ahead of the vote, Russell Indexes said certain events in Greece could mean changes in its indexes through implementation of its "financial crisis" rule. Its indexes include the Russell Global Index.

Adding to investor nervousness has been a slew of recent ratings cuts.

Among the most recent, Fitch Ratings on Friday downgraded Egypt's sovereign credit rating deeper into junk status. On Thursday, Egan-Jones cut France's sovereign credit rating.

Many investors see that trend continuing as agencies try to gauge the impact of the euro zone and other problems on the global economy.

"We're probably going to see more of it," Peterson said.?

Below, CNBC's Sue Herera looks ahead to what are likely to be next week's top business and financial stories.

Copyright 2011 Thomson Reuters. Click for restrictions.

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French Socialists win parliament majority

PARIS?? French President Francois Hollande's Socialists won a resounding parliamentary majority on Sunday, strengthening his hand as he presses euro zone paymaster Germany to support debt-laden states weighed down by austerity cuts and ailing banks.

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The Socialist Party and its affiliates secured 307 seats in the parliamentary election runoff, according to the final count for mainland France, comfortably more than the 289 needed for a majority in the 577-seat National Assembly.

The left-wing triumph means Hollande, elected in May, won't need to rely on the environmentalist Greens, who won 16 seats, or the Communist-dominated Left Front, with 10 deputies, to pass laws. The center-left already controls the upper house of parliament, the Senate.

"This gives power and a backbone to the government," said Finance Minister Pierre Moscovici, calling the result a vote of confidence in Hollande's government that would enable it to forge ahead with its economic and euro zone policies.

"Europe's future is at stake in the weeks ahead," he said.

The mainstream conservatives, who oppose Hollande's plans to raise taxes on the rich, won 224 seats.

The far-right achieved a breakthrough, winning three seats and giving the National Front a voice in parliament for the first time since the mid-1980s, after an anti-euro presidential campaign by party leader Marine Le Pen struck a chord in a nation struggling with 10 percent unemployment.

Le Pen narrowly lost her race in a working-class northern town, but her 22-year-old niece, Marion Marechal Le Pen, granddaughter of the anti-immigrant party's founder Jean-Marie Le Pen, was elected in the southern town of Carpentras. Lawyer Gilbert Collard, a non-member who was chairman of Marine Le Pen's support committee, and estranged former party member Jacques Bompard won the other two seats in the south.

The leftward swing gives the Socialists more power than they have ever held as Hollande pushes for new tools to stimulate growth in the sickly euro zone and a European banking union that would protect depositors and states if banks fail.

Political turmoil in Greece, where parties that support the country's international bailout were heading for a slim win on Sunday that leaves many problems unresolved, is piling pressure on Europe's leaders to act to contain the bloc's debt crisis at a summit later this month.

Sunday's victory may help Hollande secure parliamentary backing for steps towards a euro zone fiscal union that Berlin is demanding as a condition for agreeing to his push for a growth pact and reforms to improve financial stability.

"It's a much bigger majority than expected," said political analyst Mariette Sineau. "It can only reinforce Hollande's position internationally rather than having a weak majority and being hostage to the Greens and Left Front."

The Socialist leader flies to Mexico on Monday for a Group of 20 summit that will be dominated by the euro zone's woes as a rift with the bloc's paymaster Germany over how to resolve the crisis has sparked a rare public squabble.

PARTY UNITY OVER EUROPE KEY
Hollande, a pro-European social democrat, has broken with a Franco-German power duopoly established under his predecessor Nicolas Sarkozy and is siding with southern euro zone states, calling for more flexibility on deficit targets.

He also wants a European banking union giving the European Central Bank power to supervise cross-border banks, with a joint deposit guarantee and a resolution fund, intended to ensure that bank collapses hit shareholders before taxpayers.

With the right now severely weakened, Hollande's strong hand will be a boon as he readies a wave of legislation for the weeks ahead to raise taxes in line with his tax-and-spend program and ratify a European Union fiscal discipline pact.

As well as avoiding dependence on Eurosceptical or conservative lawmakers, Sunday's win will leave Hollande's mainly social democratic and pro-Europe cabinet intact.

All senior ministers, including Moscovici and Prime Minister Jean-Marc Ayrault, won their parliamentary races.

Ayrault said the government would throw its energy into bolstering public finances, stimulating growth and bringing down unemployment, in the euro zone as well as France.

"The goal is to shift Europe towards growth and protect the euro zone from speculation. The task before us is immense," he said.

Hollande, who can count on the backing of his Greens allies in the lower house, will need every parliament vote he can get if a public finance audit due by the end of June shows that he must slow down his spending promises to meet France's deficit goals.

One key supporter, his former partner Segolene Royal, who ran unsuccessfully for the presidency in 2007, was beaten on Sunday in the western city of La Rochelle by a left-wing rebel backed by Hollande's current partner, Valerie Trierweiler.

Royal's defeat, making her ineligible for a cabinet post, creates a headache for Hollande, who will need to find a face-saving role for her, especially after a tweet by Trierweiler backing her rival set off a media firestorm.

Another big loser was centrist Francois Bayrou who was punished by center-right voters for having thrown his support behind Hollande at the last minute. Bayrou lost a seat he had held since 1986, leaving the political center virtually devoid of a voice after his third presidential bid ended in a crushing fifth place finish in April.

Hollande will still have to work to keep his party united and rally Eurosceptics among the Socialists behind economic and European policies that may be unpopular with the public, such as Germany's demand for deeper euro zone political integration.

Ayrault said earlier on Sunday that any steps towards European federalism would need to ensure that national parliaments provided oversight.

Hollande lacks the two-thirds majority he would need to make constitutional changes that would be required for example to give EU institutions more control over national budgets, a key concession demanded by Berlin in return for more fiscal support.

"Hollande will certainly feel emboldened to carry things through and negotiate at the European Council," said Christopher Bickerton, associate political science professor at Sciences Po.

"Momentum is building for him. Whether he can garner that to push forward his agenda in Europe is the most crucial question."

Additional reporting by Leigh Thomas, Geert De Clercq, Nicholas Vinocur and Gus Trompiz in Paris and Claude Canellas in La Rochelle.

(c) Copyright Thomson Reuters 2012. Check for restrictions at: http://about.reuters.com/fulllegal.asp

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