MFSD2A

Official Full Name

MFSD2 lysolipid transporter A, lysophospholipid

Organism

Homo sapiens

GeneID

84879

Background

The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]

Synonyms

NLS1; MFSD2; MCPH15; SLC59A1; HsMFSD2A; NEDMISBA;

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Detailed Information

The major facilitator superfamily domain containing 2a (Mfsd2a) is a cell membrane protein with 12 transmembrane domains and belongs to the superfamily of major promoters of secondary transporters. The earliest study of Mfsd2a began in embryonic development and is a receptor for human syncytin-2. The study found that Mfsd2a is expressed in a series of human tissues such as liver, pons, cerebral corpus callosum, spinal cord, and cerebellum (not detected in skeletal muscle and heart), especially in brain microvessels and constitutes blood-brain barrier (BBB) is highly expressed in endothelial cells.

Figure 1. The neurovascular unit comprises endothelial cells, pericytes and astrocytes that together confer unique properties on the blood–brain barrier. (Keaney, J., et al. 2015)

The Role of Mfsd2a in the Blood-brain Barrier

Nguyen et al. showed that Mfsd2a can transport omega-3 fatty acids to the brain in the form of lysophosphatidylcholine (LPC). Ben-Zvi et al. determined that Mfsd2a regulates blood by inhibiting endocytosis of central nervous system endothelial cells. The mechanism by which brain plasma components are transferred to the brain. It was found that these two seemingly unrelated processes depend on the same gene, Mfsd2a, which plays an important role in the transport of substances in the blood-brain barrier. Ben-Zvi et al. investigated the role of Mfsd2a in the temporal and spatial development of the blood-brain barrier by establishing a functional blood-brain barrier and screened for specific genes expressed during the formation of the blood-brain barrier. The study found that the superfamily of major promoters, including Mfsd2a, is selectively expressed in blood vessels of the central nervous system that contain the blood-brain barrier. When the Mfsd2a gene was knocked out, the transcytosis of endothelial cells in the mouse central nervous system was significantly increased. It is speculated that Mfsd2a can inhibit the cell swallowing of endothelial cells in the central nervous system.

Mfsd2a and Tumor

The progression of cancer is caused by the accumulation of changes in somatic genetics and epigenetics. Studies have shown that a 106 kb linkage disequilibrium (LD) region containing genetic components is closely related to the survival of patients with lung adenocarcinoma. This region is located in the p34 region of chromosome 1, including the Mfsd2a gene. Metabolism of human intestinal microtubule endothelial cells requires Mfsd2a, which is critical for the maintenance and metabolism of DHA in the intestinal vasculature. Endothelial progenitor cells overexpressing Mfsd2a were implanted in colon cancer mice, and Mfsd2a was found to be expressed in the mucosal inflamed area and restored the ability of endothelial pro-intestinal inflammation to resolve.

The study found that Mfsd2a expression was down-regulated in a group of lung cancer specimens, and the down expression of Mfsd2a in primary non-small cell lung cancer (NSCLC) was confirmed by detecting mRNA levels of 18 pairs of lung cancer tumor tissues and matched benign adjacent tissues. Through gene chip analysis, it was found that most of the genes related to Mfsd2a expression control the body's growth and development, neurodevelopment, and exercise capacity. Overexpression of Mfsd2a in lung cancer cells induces G1 arrest, decreased S-phase DNA synthesis, cell adhesion and migration in vitro. At the same time, the expression of Mfsd2a was restored after treatment of the non-small cell lung cancer cell line with a methyltransferase inhibitor and a demethylating agent, indicating the role of methylation in this process.

References:

Keaney, J. , & Campbell, M. . (2015). The dynamic blood-brain barrier. FEBS Journal, 282(21), 4067-4079.
Nguyen, L. N. , Ma, D. , Shui, G. , Wong, P. , Cazenave-Gassiot, A. , & Zhang, X. , et al. (2014). Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid. Nature,509(7501), 503-506.
Benzvi, A. , Lacoste, B. , Kur, E. , Andreone, B. J. , Mayshar, Y. , & Yan, H. , et al. (2014). Mfsd2a is critical for the formation and function of the blood-brain barrier. Nature, 509(7501), 507.

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