Brett Smith for redOrbit.com – Your Universe Online
We don’t tend to think of fat as having a role in how our brain grows and functions; however, two newly-published studies from Duke University have found fats called lysophosphatidylcholines (LPCs) are very important to both.
Published in the journal Nature Genetics, the studies focused on a protein called Mfsd2a, a transporter for LPCs.
In the first study, researchers studied two families, one from Egypt and one from Libya, with mutations in the Mfsd2a protein that led to severely reduced brain size, or microcephaly. The researchers in that study found the mutations affected the ability of Mfsd2a to move LPCs, causing the brain to not get enough fat. Children from these families born with this condition died between one and six years of age.
Brains need transported fat
In a press release, the team from the first study said their work represents the first time a genetic disease has been linked to LPC transport in humans.
In the second study, a family living in North Pakistan was discovered to have a different kind of mutation in the Mfsd2a gene that decreased its transportation activity. People with this mutation also had microcephaly, but in this case, it was not deadly. However, they did have intellectual afflictions, reduced control of their limbs, and could not speak. Just like the first study, the team said their findings are evidence of the importance of LPCs in brain development and function.
Both studies were based on a 2014 landmark study that identified Mfsd2a as the transporter for LPCs. Before this breakthrough, LPCs were known to exist at high concentrations in our blood, but their role was a mystery. The team from that study found that mice genetically engineered without Mfsd2a could not shuttle LPCs into their brains, which triggered microcephaly.
Also, while it was believed the brain made all the fat it needed, the 2014 rodent-based study revealed that LPCs are transferred there from the blood past the blood-brain barrier. The new studies show that this also occurs in humans.
“Our work confirms the essential role of LPCs in brain development and function in humans, and indicates that brain uptake of LPCs during fetal development and in adult life is important,” said David Silver, a metabolic disorder expert at Duke who co-authored all three studies. “Now we are studying the functions of LPCs in the brain, and the implications for application are very exciting. We might be able to develop therapeutics in the future that could prevent and treat neurological disorders, and improve brain growth and function. We may even be able to target better brain nutrition for babies, mothers, and the aged.”
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