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Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
- Alicia Guemez-Gamboa, Long N Nguyen, +20 authors J. Gleeson
- Biology, MedicineNature Genetics
- 1 July 2015
The results establish a link between transport of DHA and LPCs by MFSD2A and human brain growth and function, presenting the first evidence of monogenic disease related to transport ofDHA in humans.
Mfsd2a Is a Transporter for the Essential ω-3 Fatty Acid Docosahexaenoic Acid (DHA) in Eye and Is Important for Photoreceptor Cell Development*
- B. H. Wong, Jia Pei Chan, +10 authors D. Silver
- Biology, MedicineThe Journal of Biological Chemistry
- 22 March 2016
It is demonstrated that Mfsd2a is highly expressed in retinal pigment epithelium in embryonic eye, before the development of photoreceptors, and is the primary site of MfsD2a expression in the eye.
The lysolipid transporter Mfsd2a regulates lipogenesis in the developing brain
It is demonstrated that Mfsd2a is uniquely required postnatally at the blood-brain barrier for normal brain growth and DHA accretion, with DHA deficiency preceding the onset of microcephaly.
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
The aggregate data of MFSD2A-associated genotypes and phenotypes suggest that additional factors, such as nutritional supplementation or modifying genetic factors, may modulate the severity of disease and call for consideration of treatment options for affected individuals.
The Lysophosphatidylcholine Transporter MFSD2A Is Essential for CD8+ Memory T Cell Maintenance and Secondary Response to Infection
- Ann R Piccirillo, E. Hyzny, +12 authors L. D’Cruz
- Chemistry, MedicineThe Journal of Immunology
- 1 July 2019
It is discovered that the sodium-dependent lysophosphatidylcholine (LPC) transporter major facilitator superfamily domain containing 2A (MFSD2A) is upregulated on activated CD8+ T cells and is required for memory T cell maintenance.
Mfsd2a: A Physiologically Important Lysolipid Transporter in the Brain and Eye.
Beyond its role in brain development, LPC-DHA uptake in the brain and eye negatively regulates de novo lipogenesis and the proposed transport mechanism of Mfsd2a is focused on.
Structural basis of omega-3 fatty acid transport across the blood-brain barrier.
The structure of MFSD2A is determined using single-particle cryo-electron microscopy, which reveals twelve transmembrane helices that are separated into two pseudosymmetric domains that provide insights into the molecular mechanism by which this atypical major facility superfamily transporter mediates the uptake of lysolipids into the brain.
Cover Feature: Application of Neuron‐Selective Fluorescent Probe, NeuA, To Identify Mouse Retinal Degeneration (ChemBioChem 11/2021)
Single-Particle Cryo-EM Structure of Major Facilitator Superfamily Domain containing 2A in complex with LPC-18:3
Application of Neuron‐Selective Fluorescent Probe, NeuA, To Identify Mouse Retinal Degeneration
- Sung-Jin Park, Queenie Tan Shu Woon, +6 authors Young‐Tae Chang
- MedicineChembiochem : a European journal of chemical…
- 22 February 2021
A fluorescent probe‐NeuA‐for detecting retinal neuronal cells and applied NeuA to discriminate between healthy and RP retinas can be used as the detecting RP tools in the preclinical conditions.