My parents are always saying,
eat healthy, eat your veggies.
They have the vitamins you need,
but I wanna know how do the vitamins get
to the right place in my body and
what happens if they can't get there?
A single vitamin can affect hundreds
of processes in your body. Like Vitamin B6,
which helps nearly 60 molecular machines called enzymes
to do their job making things our body needs,
and even heme for blood.
Vitamin B6 can only do this from inside the cells'
Mitochondria, so it needs to get in.
If we can't, those molecular machines can't do their job
and the body cannot make enough healthy red blood cells.
Even though it's so important,
that Vitamin B6 is able to get to the right place,
until now, we didn't know how it happened.
To find out, we used CRISPR, a tool
that can turn off genes one by one
to scan the entire genome
for a gene that allows Vitamin B6
to reach its destination. The top hit was a gene
with a difficult name - SLC25A38 -
I'll just say that once. This gene acts like a shuttle,
helping B6 get from outside the Mitochondria to inside
where it's needed. Without the gene,
Mitochondrial run out of B6.
Discovering the gene that acts
as a B6 delivery system is a major step toward
understanding and treating a severe congenital anemia,
a rare blood disorder in children.
Now that I know the problem,
my laboratory at the CHEO Research Institute is exploring
new treatment strategies.
Can we find alternative ways to deliver Vitamin B6
and other important building blocks needed
to make healthy red blood cells?
And more broadly, how do all the nutrients reach
where they need to go in the body?
Those discoveries are opening doors to potential therapies
that could help kids with rare metabolic diseases.
Want to learn more about
how CHEO researchers are uncovering the
secrets of cell metabolism?
Visit cheoresearch.ca