Quek DQY

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

Published date : 24 Jul 2018

The major facilitator superfamily domain-containing protein 2A (MFSD2A) is a constituent of the blood-brain barrier and functions to transport lysophosphatidylcholines (LPCs) into the central nervous system. LPCs such as that derived from docosahexanoic acid (DHA) are indispensable to neurogenesis and maintenance of neurons, yet cannot be synthesized within the brain and are dependent on MFSD2A for brain uptake. Recent studies have implicated MFSD2A mutations in lethal and non-lethal microcephaly syndromes, with the severity correlating to the residual activity of the transporter.

type
Journal Paper
journal
Neurogenetics 2018 Jul 24. doi: 10.1007/s10048-018-0556-6
Impact Factor
3.09

Structural insights into the transport mechanism of the human sodium-dependent lysophosphatidylcholine transporter Mfsd2a

Published date : 04 Mar 2016

Major Facilitator Superfamily Domain containing 2A (Mfsd2a) was recently characterized as a sodium-dependent lysophosphatidylcholine (LPC) transporter expressed at the blood-brain barrier endothelium. It is the primary route for importation of docosohexaenoic acid and other long-chain fatty acids into foetal and adult brain, and is essential for mouse and human brain growth and function. Remarkably, Mfsd2a is the first identified MFS family member that uniquely transports lipids, implying that Mfsd2a harbours unique structural features and transport mechanism.

type
Journal Paper
journal
The Journal of Biological Chemistry 2016 Mar 4. pii: jbc.M116.721035
Impact Factor
4.57