WEBVTT

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My parents are always saying,

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eat healthy, eat your veggies.

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They have the vitamins you need,

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but I wanna know how do the vitamins get

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to the right place in my body and

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what happens if they can't get there?

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A single vitamin can affect hundreds

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of processes in your body. Like Vitamin B6,

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which helps nearly 60 molecular machines called enzymes

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to do their job making things our body needs,

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and even heme for blood.

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Vitamin B6 can only do this from inside the cells'

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Mitochondria, so it needs to get in.

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If we can't, those molecular machines can't do their job

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and the body cannot make enough healthy red blood cells.

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Even though it's so important,

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that Vitamin B6 is able to get to the right place,

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until now, we didn't know how it happened.

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To find out, we used CRISPR, a tool

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that can turn off genes one by one

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to scan the entire genome

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for a gene that allows Vitamin B6

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to reach its destination. The top hit was a gene

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with a difficult name - SLC25A38 -

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I'll just say that once. This gene acts like a shuttle,

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helping B6 get from outside the Mitochondria to inside

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where it's needed. Without the gene,

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Mitochondrial run out of B6.

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Discovering the gene that acts

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as a B6 delivery system is a major step toward

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understanding and treating a severe congenital anemia,

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a rare blood disorder in children.

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Now that I know the problem,

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my laboratory at the CHEO Research Institute is exploring

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new treatment strategies.

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Can we find alternative ways to deliver Vitamin B6

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and other important building blocks needed

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to make healthy red blood cells?

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And more broadly, how do all the nutrients reach

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where they need to go in the body?

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Those discoveries are opening doors to potential therapies

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that could help kids with rare metabolic diseases.

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Want to learn more about

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how CHEO researchers are uncovering the

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secrets of cell metabolism?

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