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Scientists Work To Unravel Mystery Behind Woman Who Doesn’t Grow

Twenty year old Brooke Greenberg hasn’t grown since age five. For the last 15 years mystified doctors have been unable to explain the cause for Brooke’s disorder that has kept her aging in check. At age twenty, she maintains the physical and mental appearance of a toddler.

Eric Shadt wants to solve this most bizarre of medical mysteries. Director of the Icahn Institute for Genomics and Multiscale Biology at the Mount Sinai Medical Center in New York, Shadt is leading research to uncover the genetic cause for Brooke’s condition.

Because hormones control many of the maturation processes, one of the first things the research team looked at was to see if Brooke’s own hormone levels might be abnormal. In a piece he wrote on Katie Couric’s website on whose show he and the Greenberg family recently appeared, Shadt explained that Brooke “has no apparent abnormalities in her endocrine system, no gross chromosomal abnormalities, or any of the other disruptions known to occur in humans that can cause developmental issues.”

The researchers are now are painstakingly analyzing Brooke’s entire genome in search of unique mutations. Needless to say, it is a formidable undertaking. “Cracking the code on Brooke’s condition,” Shadt wrote, “is the proverbial searching for a needle in a haystack, since likely there is one or a small number of letters changed in Brooke’s genome that has caused her condition.”

To find the mutation Shadt and his team are using the latest genome sequencing and analysis tools. The strategy is to compare Brooke’s genome to the genomes of her parents and three normal sisters, as well as to other available sequences from the general population, and identify gene mutations that only Brooke has.

Unraveling the genetics that prevent Brooke Greenberg from aging could lead to treatments for Alzeheimer’s disease, cancer, or to slow the process of aging itself. Source: KatieCouric.com

Already the research team has found some unique mutations. To test the function of these the genes they’ve taken cells from Brooke’s skin, converted them to stem cells, then converted the stem cells to neurons, liver cells, fat cells and other types of cells. Because they are her own the cells provide a powerful tool with which to determine how the genes affect Brooke’s biology. Unfortunately any gained insights would not be able to treat her condition, but it is hoped that identifying the genetic abnormalities could lead to new treatments for other diseases. In addition to possibly learning about the aging process and the secrets to longevity, Shadt thinks the anti-aging effects of the genes could be used to develop gene therapies or drugs to treat Alzheimer’s, heart disease or cancer.

In addition to the cellular studies, Shadt mentioned on the Katie Couric show that they’re beginning studies to determine how the mutated genes affect the health of fruit flies. It’s possible that signs of arrested aging Brooke is experiencing will be seen in these organisms. Not only would that allow them to identify the ‘needles in the haystack’ but also to study how they work.

As far as Shadt knows Brooke is the only person in world with this condition. Its singular rareness means it doesn’t even have an official name. Doctors have taken to calling it Syndrome X.

Brooke’s early life was complicated with a number of medical emergencies. Before reaching six she had undergone several surgeries for seven perforated stomach ulcers. She had also suffered a brain seizure which had caused a stroke, but the stroke had no lasting effects. At four years of age she fell into a coma for 14 days. The doctors identified a brain tumor, but by the time she’d woken up the tumor had disappeared. There’s a sense that, despite her arrested maturation, she has an uncanny ability to overcome other medical complications. It’s hoped that this is real and not just a coincidence, and is in fact more evidence that elucidating the genetics underlying her disease may help others overcome their diseases as well.

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20 comments

  • Everett Pompeii says:

    Is it possible that brain damage, not genes, is the cause?

  • Henrik Wichert
    Henrik Wichert says:

    The first seconds I thought great they may find something out about aging from her. But then I think it’s more like her development has only stopped and she is aging like every one else.

  • Jt Perry says:

    what if…
    when she is 90, she hits puberty
    and like…
    lives to 200-300+

  • failcake says:

    The poor kid, poked and prodded by salivating scientists. And who can blame them? It’s a nice change from studying people that are stuck at five mentally, but age (and enter puberty and so on) “normally”. Those are not easy to care for. An otherwise normal five year old… but is she, other than not growing?

    • Levi Dettwyler says:

      The potential treatments that could be derived from knowledge gained from studying this person for things like various cancers and Alzheimers can help untold numbers of people. Stop casting scientists (in this case, geneticists) as greedy knowledge-crazy animals. They’re people just as much as anyone else trying to make the world a better place.

  • PJS says:

    “She had also suffered a brain seizure which had caused a stroke, but the stroke had no lasting effects. At four years of age she fell into a coma for 14 days. The doctors identified a brain tumor, but by the time she’d woken up the tumor had disappeared.”

    Yeah, no lasting effects…

  • dobermanmacleod says:

    She may not grow, but I will guarantee that her cells divide. Ever hear of the Hayflick Limit? Human cells don’t divide indefinitely, instead they have divide a finite number of times before suffering senescence. I believe the prime mechanism is the telomere strand at the end of our DNA strand. There is one supplement that is proven to grow telomere strand (TA-65, which is about 200 $/month – ouch), but don’t get too excited because there are animals whose telomere strand doesn’t shrink that much, and they still die (lobsters for instance). Check this out: http://www.my-wellness-coach.com/2010/07/the-man-who-would-be-immortal-.html
    Immortality first, everything else second. Technology is growing at an exponential rate, and therefore it is probable that within twenty years there will emerge extreme longevity treatments that will enable us to live centuries (don’t get me started, there isn’t the space here for a data dump).

    • Kyle Rybski says:

      It’s not just that she’s not growing, though. We understand stunted growth. But she’s not maturing at all.

      Yet after maturation comes aging. The coming decade should show whether she ages. If her cells break down like everyone else’s, then we should see it in her skin as she moves out of her 20s. In some close-ups it does look like she already has some symptoms consistent with early aging, but that could have more to do with her low body fat. Again, we’ll see.

  • vmagna says:

    Followed by “scientist work hard to unravel mystery of women who don’t mature” ;)

  • Robert Schreib says:

    Holy !@#$, truth really is stranger than fiction! Did Brooke grow even slightly in all these years? If so, she might have a limited life span like the rest of us, except it may be enlogted over a thousand years, so she could be a full gown adult someday.

  • Sandy Rowley
    Sandy Rowley says:

    Absolutely amazing. However how tantalizing living forever young may sound, the idea of population increasing at break neck speeds could have devastating effects on all species health and longevity.

    This is truly an inspiring medical case I am sure we all will follow for many years.

    Sandy Rowley

    • Volodymyr Semenyuk says:

      Why do you think population will increase at break neck speeds after conquering aging?
      Any person just staying alive is still one person, no increase of population. It’s decisions to give birth to children that increase it. And people can make these decision more consciously if they are even slightly afraid for their economical prospects. Even in today’s world more and more people care first of all about themselves, their parents and other important people and the entire humanity. Some ot them still have children at about 35 or 45 because they are about to lose their reproductive ability if waiting more. But when this limit goes up, more people will start delaying birth to 50, or 60, or indefinitely if they can safely wait for decades. The economy and society of the developed world are already used to a few-children model; it will get use to later-children or no-children-before-space-exploration models as well.

      A little jump in demographics may only be caused by those who would still want a child but lost their ability before, but this will certainly be one-time event of no significant scale, and it will be quickly followed by the counter effect by the next generation: they will grow up knowing they will live on young for hundreds of years and they won’t need to hurry with reproduction in their 20s or 30s. They will rather find some more interesting opportunities in the world than to be a consumable in the blind biological evolution.

  • Joe Cushing says:

    I’ve heard that before age 12 or so, human genes and therefore human bodies don’t age. If she is stuck at age 5, maybe she will never die or at least never die of anything aging related. She could live for 1000s of years.

  • stupidusATmailDOTcom says:

    Happened this far:
    - born with anterior hip dislocation (was surgically corrected)
    - 7 x perforated stomach ulcers
    - a seizure
    - a stroke
    - a 14 day coma induced by brain tumor
    - body is developing as independent parts that are out of synchronization
    - brain not much more mature than that of a newborn infant
    - can make gestures, recognize sounds, but cannot speak
    - is fed through a tube inserted into her stomach, because her oesophagus is so small that swallowed food could back up into her lungs and cause pneumonia
    - was put on a growth hormone treatment (to no effect)
    - is on continual medication
    - 20th year wearing diapers and traveling in a stroller…

    The state of Maryland has provided two nurses to help care for Brooke 16 hours a day, because she was getting sick often and needed a feeding tube inserted in her stomach.
    “From the ages of 1 to 5, she spent 65 percent of her life in the hospital,” her mom, Melanie, said. “It takes her 10 hours a day just to eat. She’s medically fragile.”

    Dr. Richard Walker, a biomedical researcher and editor-in-chief of Clinical Interventions in Aging, discovered Brooke’s mutated gene. He has been studying her case since 2006.
    “There’s no hope for her, but what she brings to science is information on how we may be able to delay aging.”

    Source: http://www.foxnews.com/story/0,2933,538020,00.html

    ***

    I am the first person to say this just ain’t right? This is inhumane and amoral.

    Imagine the pain that she has been going through and will be going through (if it’s up to parents and/or medical science)? It’s more than likely that she will never get better, and that she will never get to be an autonomous person in any measure.

    She would not exist without extreme “care” administered to her.

    The only decent thing to do, is to let her, finally, die in peace. I am disgusted by everyone who still want this “experiment” – or should I say “experience” – to continue. In a little bit saner world, people would’ve been locked up for doing something like this… Just saying.

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