http://www.huffingtonpost.com/joaquin-m-espinosa/does-study-of-down-syndro_b_5979458.html
What images and thoughts come to your mind when you think of Down syndrome?
Do
you think of cognitive disabilities, short stature and contagious
smiles? There is something that you are probably not thinking about: Our
friends and relatives with Down syndrome may hold a cure for cancer.
Down
syndrome is caused by an extra copy of chromosome 21. Instead of
inheriting just two copies of every chromosome, one from each parent,
individuals with Down syndrome carry a third copy of chromosome 21. This
chromosome is very small compared with other chromosomes, and it
carries only a few hundred of the 20,000-plus genes in every human cell.
However, an extra copy of this tiny piece of DNA suffices to cause all
the features of Down syndrome, including but not restricted to
intellectual disabilities, short stature, congenital heart defects and
increased risk of developing Alzheimer's disease.
Remarkably,
people with Down syndrome have an increased incidence of leukemia but a
much lower incidence of solid tissue tumors. What is it about the extra
copy of chromosome 21 that protects them from solid tumors but
predisposes them to blood cancers?
One hypothesis in this research
field is that chromosome 21 carries a few cancer-protective genes that,
when in an extra dose, prevent the growth of solid tumors. The hunt for
these genes is an area of active research,
and scientists have already identified at least two "tumor suppressor"
genes that work by preventing the formation of new blood vessels around
an actively growing solid tumor. The process of blood vessel formation,
known as angiogenesis, is tightly controlled by pro- and anti-angiogenic
genes, and we know now that two potent anti-angiogenic genes are on
chromosome 21. Thus, the additional copy of these genes in people with
Down syndrome would prevent the irrigation of incipient tumors,
effectively starving them of oxygen and nutrients. Interestingly, the
growth of leukemias is not really restricted by angiogenesis, because
these cancers are already circulating freely in the blood.
A
second interesting idea is that the extra chromosome somehow prevents
stem cells from dividing properly, so cancer cells that happen to occur,
which resemble stem cells in many ways, fail to form a tumor.
But
how do we explain then the increased risk of leukemias? Interestingly,
scientists have noticed that in many leukemia patients not affected by
Down syndrome, a small piece of chromosome 21 is nonetheless
"amplified." The leukemia cells in these children make many copies of
this specific fragment of DNA in chromosome 21, which seems to carry one
or more "leukemia oncogenes" (i.e., genes that promote the
proliferation of blood cells). At least one well-characterized
leukemia-promoting gene is located in this region of chromosome 21.
Therefore,
our friends and relatives with Down syndrome are, even if
unintentionally, enabling discoveries about how cancers develop and how
to combat them. Being the most common chromosomal disorder
in the population, affecting approximately 1 in 700 newborns, Down
syndrome provides a unique opportunity to advance not only cancer
research but many other areas of biomedical research, such as
Alzheimer's disease and congenital heart defects.
From an
epidemiological standpoint, the 400,000 individuals with Down syndrome
living in the U.S.A. today constitute a potential gold mine for
scientific discoveries. They may carry the secrets that unlock cancer
and Alzheimer's, yet we know very little about them, as they have been
clearly underserved by the scientific enterprise in general and federal
funding agencies in particular.
In 2012, the National Institute of Health spent only 50 research dollars
per individual with Down syndrome, seven times less than what was spent
on people with multiple sclerosis, and 57 times less than what was
spent on people with cystic fibrosis. Fortunately, recent developments
in the philanthropy sector are increasing awareness and funding for Down
syndrome research, such as the creation of the Linda Crnic Institute for Down Syndrome.
As
is often the case in science, the solutions to one problem arise from
the study of a seemingly unrelated problem. Next time you meet a person
with Down syndrome, say thank you, because he or she may enable the cure
for common health issues that will affect you and those you love.
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