The Edmond Sun

Features

July 20, 2013

Down syndrome's extra chromosome silenced in lab cells

Scientists silenced the extra copy of a chromosome that causes Down syndrome in laboratory stem cells, offering the first evidence that it may be possible to correct the genes responsible for the disorder.

The findings, published Wednesday in the journal Nature, offer new cell models for developing potential treatments, researchers said. The models, aided by gene-manipulating technology from Sangamo Biosciences Inc., may help researchers discover drug targets for other ill health effects that come with the syndrome, including heart disease, hearing difficulties, and weakened muscles.

Down syndrome slows physical and intellectual development. About 6,000 babies are born every year with the condition, which is caused by an extra copy of chromosome 21, according to the U.S. Centers for Disease Control and Prevention. While some genetic disorders have been easier to study because a single gene drives them, Down syndrome is more complex, said Robert Nussbaum, chief of genomic medicine at the University of California, San Francisco.

"It's a technical tour-de-force," Nussbaum said of the research, in a telephone interview. "We don't really understand why the extra copy of chromosome 21 causes the problems it does. So this might allow us to have a thorough description of what goes wrong." Nussbaum wasn't involved in the study.

While the findings aren't a cure for Down syndrome, they make what was once a mysterious disorder much easier to study, Nussbaum said.

In Wednesday's paper, researchers led by Jeanne Lawrence, a professor of the department of cell and developmental biology at the University of Massachusetts Medical School, used a gene called Xist. The gene creates a regulating piece of RNA that ordinarily quiets the second X chromosome in women. In women, the extra RNA makes copies that coat the whole second X chromosome, preventing it from producing proteins. The scientists wondered if this quieting effect could be used specifically to silence the third copy of chromosome 21.

Text Only
Features
  • Doctors to rate cost effectiveness of expensive cancer drugs

    The world's largest organization of cancer doctors plans to rate the cost effectiveness of expensive oncology drugs, and will urge physicians to use the ratings to discuss the costs with their patients.

    April 16, 2014

  • treadmill-very-fast.jpg Tax deduction for a gym membership?

    April marks another tax season when millions of Americans will deduct expenses related to home ownership, children and education from their annual tax bill. These deductions exist because of their perceived value to society; they encourage behaviors that keep the wheels of the economy turning. So why shouldn't the tax code be revised to reward preventive health?

    April 16, 2014 1 Photo

  • Allergies are the real midlife crisis

    One of the biggest mysteries is why the disease comes and goes, and then comes and goes again. People tend to experience intense allergies between the ages of 5 and 16, then get a couple of decades off before the symptoms return in the 30s, only to diminish around retirement age.

    April 16, 2014

  • Screen Shot 2014-04-16 at 12.51.22 PM.png VIDEO: Toddler climbs into vending machine

    A child is safe after climbing into and getting stuck inside a claw crane machine at a Lincoln, Neb., bowling alley Monday.

    April 16, 2014 1 Photo

  • To sleep well, you may need to adjust what you eat and when

    Sleep.  Oh, to sleep.  A good night's sleep is often a struggle for more than half of American adults.  And for occasional insomnia, there are good reasons to avoid using medications, whether over-the-counter or prescription.

    April 16, 2014

  • portraitoflotte.jpg VIDEO: From infant to teen in four minutes

    Dutch filmmaker Frans Hofmeester’s time lapse video of his daughter, Lotte — created by filming her every week from her birth until she turned 14 — has become a viral sensation.

    April 16, 2014 1 Photo

  • Sheriff seeks items for agency history project

    If you have historic pictures or artifacts related to the Oklahoma County Sheriff’s Office, the agency is asking the public to share them.
    “The Oklahoma County Sheriff’s Office is working on a history project. If you, your family, friends or acquaintances have any old photos or artifacts related to the OCSO we would love to have them or a digital copy,” said Oklahoma County Sheriff John Whetsel.

    April 16, 2014

  • oil infographic[1].png Easy on the coconut oil

    These days, it seems like coconut oil is soaking up credit for its positive affect on a wide range of health conditions. But, still developing science around the popular oil tells a little different story.
    “We know all saturated fats are not created equally, but there’s no evidence that coconut oil is better or healthier than other vegetable oils,” said Janice Hermann, Oklahoma State University Cooperative Extension nutrition specialist.

    April 16, 2014 1 Photo

  • Easter 4e.JPG Moms Club finds Easter fun at Fountains at Canterbury

    The Fountains at Canterbury hosted members of the Moms Club of Edmond-West Tuesday morning for a Easter egg hunt and party complete with a special visit from the Easter Bunny. Residents at the Fountains at Canterbury hid several dozen eggs filled with prizes and candy for the children. The Moms Club of Edmond-West is a nonprofit, local chapter of stay-at-home moms who aim to support each other during the day.

    April 16, 2014 2 Photos

  • New study counters pot legalization argument

    A new study raises a strong challenge to the idea that casual marijuana use isn’t associated with bad consequences, a researcher says.
    Researchers say the findings suggest recreational marijuana use may lead to previously unidentified brain changes and highlight the importance of research aimed at understanding the long-term effects of low to moderate marijuana use on the brain.

    April 15, 2014