Download An End to Ageing

An end to ageing? Real-life Peter Pan
could hold clue to eternal youth
Brooke Greenberg, pictured here when she was eight, suffered from a condition that stopped her growth at the age of four
Lisa Carpenter
The case of a 20-year-old woman who stopped developing when she was
four has given scientists hope of isolating the gene that caused her
condition and of learning more about age-related illness
Charlie Cooper
Sunday 10 November 2013
They called Brooke Greenberg the real-life Peter Pan – the little girl who never grew up.
By the age of four she had stopped growing and remained, physically and mentally, frozen as a
child all her life. Two weeks ago, she died, aged 20, after becoming ill in the summer. For much of
her short life, she was studied by scientists striving to understand her condition. It is known only
as Syndrome X – and no one knows what causes it.
The media-friendly Peter Pan label belies a life which had more than its fair share of pain and
hardship. Brooke, born in Baltimore, Maryland, in January 1993, suffered from medical problems
– including hip dislocation, breathing difficulties, seizures and strokes – which began early and
persisted throughout her life. But, scientists believe, if the genetic cause of her agelessness can be
isolated, then Brooke Greenberg might just hold the key to one of the oldest endeavours in the
history of science – slowing, or even stopping, ageing.
Brooke's DNA is now being studied, along with a handful of other children who have all the signs
of Syndrome X, in the hope that understanding the condition could still yield an astonishing
breakthrough in medical science.
Dr Eric Schadt, the director of the Institute for Genomics and Multiscale Biology at Mount Sinai
Hospital in New York, has been entrusted by Brooke's family with their daughter's DNA and
blood samples to create stem cells with which he can investigate the genetic basis of her
condition. "Understanding the causes of Brooke's condition could provide insights into key
development and ageing processes, which could lead to novel ways to increase longevity, and
reduce age-related disorders," he said.
He has already sequenced Brooke's genome, and that of her parents and three siblings – all of
whom grew up completely normally. "From this we have a number of mutations identified that
are specific to Brooke that explain her condition," Dr Schadt said. "However, the function of the
candidate genes we've identified are not fully known, nor how they relate to development and/or
ageing."
The hope is that clear links may be drawn between the mutations identified, and Brooke's
syndrome – and, more specifically, her agelessness. That mutation could then reveal the genetic
processes that medical treatments would need to target to slow or stop ageing.
Another scientist who worked closely with Brooke, Dr Richard Walker of the All Children's
Hospital in St Petersburg, Florida, said that such a breakthrough would have significant
implications for treatments of a range of diseases associated with ageing, including cancers.
"Most intrinsic diseases are related to biological age," he said. "If you can slow that process in
people with genetic markers for say, breast cancer, then we might be able to give them a little
more quality life before the onset of the expression of those negative genes or else, in some way,
until there could be found a cure for the disease itself."
It is likely, however, that the same unknown factor that caused Brooke's agelessness also caused
her chronic ill health. Dr Schadt said that, despite this, it might be possible to encourage a less
"extreme" version of Brooke's condition that slowed ageing without any of the associated
problems.
"[It would be] similar to studying mutations in growth hormones that can cause one to grow
uncontrollably, but then such insights lead to growth hormone treatments that can help those
who have growth deficiencies grow to a more normal height," he said.
The next step, upon discovering a possible genetic basis for Brooke's condition, would be to create
artificially the same genetic conditions in short-lived lab animals such as mice. "If at five years
they're still young, it's a home run," Dr Walker said.
If ageing can be slowed, it may also be possible to stop it altogether. "Biological immortality is in
my mind possible, but improbable," said Dr Walker. "It's not so much that we wouldn't want to
do it, but think about the ethical, philosophical and religious issues that would come to the fore
before we ever could get the funding. But this is an age-old question: why are we mortal? I don't
think, if we were on the threshold of understanding it, that we would stop."
Medical Heroes
A number of patients with unusual medical conditions have lived on in posterity because of the
help they gave researchers in finding weapons to fight disease – whether as cell or organ donors
or even as guinea pigs...
Henrietta Lacks
1920-1951
Henrietta Lacks was a woman from Virginia who became the unwitting source of cells used to
create the first immortal cell line. In January 1951, she was treated for cervical cancer at the
Johns Hopkins Hospital, Baltimore, but died after a few months. During treatment, samples of
the cancer were removed and it was found that the cells could be kept alive and grown. These
cultured cells became known as the HeLa Immortal Line and have been used to develop the polio
vaccine.
Henry Molaison
1926-2008
At the age of 27 Henry Molaison, from Hartford in Connecticut, became unable to create new
memories after an operation designed to cure him of his debilitating epilepsy. His case became
one of the most famous in neuroscience and revolutionised the understanding of human memory.
Molaison's brain is now the subject of an unprecedented anatomical study by the Dana
Foundation – a project that will provide a complete microscopic survey of his entire brain.
Stephen Crohn
1947-2013
After seeing many of his friends, including his boyfriend, die of Aids-related illnesses, Stephen
Crohn, of New York, volunteered to have his white blood cells exposed to HIV. But doctors were
unable to infect him even at concentrations thousands of times stronger than usual. The research
resulted in the development of maraviroc, a drug that is used to prevent infection spreading in
patients who have contracted the virus. Crohn killed himself at the age of 66.