Essential Fatty Acids (EFAs) and long-chain polyunsaturated fatty acids (PUFAs), such as docosahexaenoic acid (DHA) are lipids critical for brain growth, development and function.
However, the brain's protective blood brain barrier (BBB) is impermeable to free circulating EFAs or those bound to triglycerides and most phospholipids1,2. How the brain acquires its lipids during development and throughout life has remained a puzzle to scientist for years.
The Discovery of MFSD2a and LPL-EFAs
- To enter the brain, EFAs must be transported by a specific protein found on the BBB; the Major Facilitator Superfamily Domain–Containing 2a (MFSD2a)3-6
- MFSD2a specifically transports EFAs and PUFAs attached to a Lysophospholipid (LPL), of which Lysophosphatidylcholines (LPCs) are the most abundant circulating form5.
- Patients with genetic mutations in MFSD2a that disrupt LPC-EFA transport suffer from severe microcephaly (small brains) and cognitive defects3,4.