Down syndrome occurs is the leading genetic disorder in the world, and a new study might
have found a way to reverse it.
Hey everyone, Trace here for DNews with some interesting new breakthroughs concerning Down
syndrome.
The genetic disorder is caused by an improper replication of chromosomes with the 21st having
a little extra.
A comprehensive distinction was created by John Langdon Down in 1866...
He, rather insensitively, called people with Down syndrome "mongoloids."
Arguably an upgrade from the term "idiot" which they'd previously been associated.
// People were really mean in history!
// By the 1950s we knew it was a chromosomal genetic condition, but it wasn't until the
2000s that we really figured this thing out.
Down syndrome can be diagnosed in the womb, and manifests outwardly with an upward slant
to almond-shaped eyes, a flatter face structure, small ears, hands, feet, neck and overall
stature, low muscle tone and a crease across the palm.
Doctors, however, are focusing on the INTERNAL genetic changes -- namely those in the brain.
People with Down have a smaller cerebellum -- the part of the brain associated with motor
control -- and a smaller hippocampus thought to work with memory and understanding of space.
A study published in Science Translational Medicine claims a new drug may reverse the
cerebellum's abnormality!
The cerebellum in someone with Down is 40 percent smaller than the average brain.
Mice genetically engineered to have Down were given a drug on the day they were born designed
to stimulate the growth of the cerebellum.
The Sonic Hedgehog protein affects the signals for embryonic cell development in bilateral
brain animals -- Yes.
It was named after Sega's mascot.
The drug they injected was called the "sonic hedgehog pathway antagonist," you can't make
this stuff up.
I love science.
Not only did it work, restoring the cerebellum to 100 percent normal, but the mice's learning
and memory improved too -- even though the hippocampus remained unchanged!
The Down mice who'd been treated with the sonic hedgehog pathway antagonist performed
JUST AS WELL as the normal mice without the chromosomal engineering.
This was shocking.
The researchers aren't sure HOW this treatment helps the brain perform normally, but they
assume the regular-sized cerebellum must be able to better communicate with the hippocampus?
They know they need more study, either way.
There are 6,000 Down syndrome babies born every year in the U.S. and thanks to medical
science, the lifespan of someone with the disorder has skyrocketed from 9 years in 1910,
and only 25 in 1980.
Today, it's 60.
When this study was released, many websites claimed it was a QUOTE "single dose cure,"
but we've got a lot more to do.
People with Down syndrome won't be cured by this drug, but it's a HUGE step in the right
direction for understanding potential treatments!
Go get a degree in science and help!
Do you know another genetic disorder you'd like to know more about?
Maybe that you'd like to see a cure for?
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