Proteins integrated into the cell membrane play a crucial role in transporting nutrients to the intended destination within our cells. If this transportation system malfunctions and metabolites are unable to reach their target, it can have adverse effects on human health, ranging from rare illnesses
to neurodegenerative disorders and even cancer. A deeper comprehension of how metabolites are transported into cells could pave the way for potential therapies for diseases associated with metabolite transportation.
“You can get supplemental choline over-the-counter—it’s easily administered and patients can tolerate fairly high levels of it,” says Timothy Kenny, a postdoctoral fellow in the laboratory of Kivanc Birsoy atThe results may also pave the way for further discoveries that chip away at the inner workings of other transport proteins and diseases that are linked to their dysfunction. “The whole study is a proof of concept,” Birsoy says.
Choline was also an appealing choice because of the bevy of diseases associated with its deficiency. “Choline is a key component of cell membranes and neurotransmitters, so it’s biologically important, and choline deficiency is also associated with fetal alcohol spectrum disorders, neurodegeneration, liver disease, and some cancers,” Birsoy says.
Moreover, the experiment with mouse embryos provided evidence that FLVCR1 mutations may be treatable with supplemental choline. If that holds in humans, that would mean that it may make more sense to provide PCARP patients’ missing choline through a dietary supplement than to try to fix the transporter that should have been bringing choline into their cells.
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