This episode is sponsored by Toodaloo, a healthy and flavorful cosmic trail mix.
To try Toodaloo, check out toodaloo.com/SCISHOW
and use the code SCISHOW to get $5 off your first order!
[♪ INTRO]
Some people are constantly coughing up mucus,
and it’s not always because they have a perpetual cold or allergies.
Sometimes, that symptom is caused by a rare genetic disease that
puts your organs on the opposite side of your body from everyone else’s.
Your organs can be flipped!
Like, you’d put your left hand over your heart
because it’s on the right side of your body.
And this doesn’t always cause as many problems as you might think.
For some people, this condition does lead to life-threatening complications,
but others can have long, fulfilling lives and
not even know that their organs are flipped.
And it all comes down to how your cilia work, or don’t work.
Cilia are kind of like millipede legs for your cells.
They stick out like hairs from the surface of a cell
and rotate to help that cell move around in your body.
And cells need to move around because of the way fetuses develop.
During development, cells are rapidly growing and dividing to form a human,
and most of those cells eventually specialize to do certain jobs.
Like, some cells in your intestines help you get nutrients from your food,
and other cells in your heart help you circulate blood.
But those cells start specializing before they really have a place to go.
For instance, your heart is one of the first organs you made,
and you started forming heart cells before you had a chest to put them in.
And many organs start developing before or as they
travel to where they’ll sit for the rest of someone’s life.
So besides moving cells around generally,
cilia are also necessary to get those organs where they're going.
Sometimes cilia move the cells that they’re on,
and sometimes they move cells through a different mechanism.
By beating the fluid around them, they generate a current
that acts like the lazy river of human development.
Either way, when cilia aren’t working properly,
cells and organs can end up in uncommon locations.
And before you know it, you’ve grown a body with a bunch of flipped organs,
including your heart, liver, and spleen.
They’re still whole organs, and they generally do what you need them to,
but they aren’t where you might expect them to be.
This is what happens in Kartagener syndrome.
It’s a rare genetic disease that affects anywhere from
1 in 12,000 to 1 in 30,000 people.
It’s one kind of Primary Ciliary Dyskinesia, or PCD, which is a category of
conditions where someone’s cilia don’t move the way other people’s move.
And it develops when someone receives otherwise
harmless copies of one or more genes from both of their parents.
At this point, researchers don’t know exactly
which genes are at the root of all this, but they have a few ideas.
For example, PCD has been linked to at least
three genes that lead to loss of dynein arms in cilia.
Dynein arms are the part of the cell that give energy to cilia so that cells can move.
So if a cell is missing dynein arms, it’s unlikely that it could travel around.
There’s more nuance to it than that,
but in general dynein arms seem pretty important to get your cilia going.
And ciliary dysfunction has been reported in
several other structures related to dynein arms.
And there are a bunch of proteins involved in their assembly that
researchers are studying to get a better understanding of PCD.
Overall, when it comes to Kartagener syndrome specifically,
most cases involve mutations in the outer dynein arms, but not all of them do.
That means PCD and Kartagener syndrome manifest in a variety of symptoms
that may look different in individual cases.
And how long it takes before you get a diagnosis can affect health outcomes.
But generally, people living with Kartagener syndrome
have more than just flipped organs.
That’s a big part of it, but they might also have chronic sinus problems,
cough up mucus, and experience infertility. . . .
And that’s because cilia don’t /just/ help organs get organized.
They have plenty of other jobs throughout someone’s life,
including helping sperm move, eggs implant, and mucus clear from the lungs.
In some cases, this can lead to Kartagener syndrome being life-threatening,
because if mucus doesn’t get cleared out of airways effectively and blocks airflow.
So, when your cilia don’t work the way other people’s do,
it can have big impacts on more than just organ location.
Really, these little cilia do so much for us!
And when they don’t, it can be a big deal.
PCD has been compared to Gastroesophageal Reflux Disease,
which is a digestive disorder.
And when things aren’t going as you might hope they would
with your digestive system, it can throw you for a loop.
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Toodaloo’s trail mix is full of herbs to support
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So you can be good to your body and good to the world at the same time.
To try Toodaloo, check out toodaloo.com/SCISHOW and use the code SCISHOW
to get $5 OFF your first order.
And they’ve got an OMG Guarantee, so if you don’t agree that Toodaloo is
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Thanks to Toodaloo for supporting this SciShow video and thank you for watching.
[♪ OUTRO]