Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, Weedon MN, Rich P, Patton MA, Warner TT, Silver DL, Crosby AH (2015) A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nat Genet 47(7):814–817. https://doi.org/10.1038/ng.3313
Article CAS PubMed Google Scholar
Andreone BJ, Chow BW, Tata A, Lacoste B, Ben-Zvi A, Bullock K, Deik A, Ginty DD, Clish CB, Gu C (2017) Blood–brain barrier permeability is regulated by lipid transport-dependent suppression of caveolae-mediated transcytosis. Neuron 94:581-594.e5. https://doi.org/10.1016/j.neuron.2017.03.043
Article CAS PubMed Central PubMed Google Scholar
Angers M, Uldry M, Kong D, Gimble JM, Jetten AM (2008) Mfsd2a encodes a novel major facilitator superfamily domain-containing protein highly induced in brown adipose tissue during fasting and adaptive thermogenesis. Biochem J 416(3):347–355. https://doi.org/10.1042/BJ20080165
Article CAS PubMed Google Scholar
Balakrishnan J, Kannan S, Govindasamy A (2021) Structured form of DHA prevents neurodegenerative disorders: a better insight into the pathophysiology and the mechanism of DHA transport to the brain. Nutr Res 85:119–134. https://doi.org/10.1016/j.nutres.2020.12.003
Article CAS PubMed Google Scholar
Ben-Zvi A, Lacoste B, Kur E, Andreone BJ, Mayshar Y, Yan H, Gu C (2014) MFSD2A is critical for the formation and function of the blood–brain barrier. Nature 509(7501):507–511. https://doi.org/10.1038/nature13324
Article CAS PubMed Central PubMed Google Scholar
Cater RJ, Chua GL, Erramilli SK, Keener JE, Choy BC, Tokarz P, Chin CF, Quek DQY, Kloss B, Pepe JG, Parisi G, Wong BH, Clarke OB, Marty MT, Kossiakoff AA, Khelashvili G, Silver DL, Mancia F (2021) Structural basis of omega-3 fatty acid transport across the blood–brain barrier. Nature 595(7866):315–319. https://doi.org/10.1038/s41586-021-03650-9
Article CAS PubMed Central PubMed Google Scholar
Chen H, Tang X, Li J, Hu B, Yang W, Zhan M, Ma T, Xu S (2022) IL-17 crosses the blood–brain barrier to trigger neuroinflammation: a novel mechanism in nitroglycerin-induced chronic migraine. J Headache Pain 23(1):1. https://doi.org/10.1186/s10194-021-01374-9
Article CAS PubMed Central PubMed Google Scholar
Colombo F, Falvella FS, Galvan A, Frullanti E, Kunitoh H, Ushijima T, Dragani TA (2011) A 5′-region polymorphism modulates promoter activity of the tumor suppressor gene MFSD2A. Mol Cancer 10:81. https://doi.org/10.1186/1476-4598-10-81
Article CAS PubMed Central PubMed Google Scholar
Cui Y, Wang Y, Song X, Ning H, Zhang Y, Teng Y, Wang J, Yang X (2021) Brain endothelial PTEN/AKT/NEDD4-2/MFSD2A axis regulates blood–brain barrier permeability. Cell Rep 36(1):109327. https://doi.org/10.1016/j.celrep.2021.109327
Article CAS PubMed Google Scholar
De Bock M, Van Haver V, Vandenbroucke RE, Decrock E, Wang N, Leybaert L (2016) Into rather unexplored terrain transcellular transport across the blood–brain barrier. Glia 64(7):1097–1123. https://doi.org/10.1002/glia.22960
DosSantos MF, Holanda-Afonso RC, Lima RL, DaSilva AF, Moura-Neto V (2014) The role of the blood–brain barrier in the development and treatment of migraine and other pain disorders. Front Cell Neurosci 8:302. https://doi.org/10.3389/fncel.2014.00302
Article PubMed Central PubMed Google Scholar
Eser Ocak P, Ocak U, Sherchan P, Gamdzyk M, Tang J, Zhang JH (2020a) Overexpression of Mfsd2a attenuates blood brain barrier dysfunction via Cav-1/Keap-1/Nrf-2/HO-1 pathway in a rat model of surgical brain injury. Exp Neurol 326:113203. https://doi.org/10.1016/j.expneurol.2020.113203
Article CAS PubMed Google Scholar
Eser Ocak P, Ocak U, Sherchan P, Zhang JH, Tang J (2020b) Insights into major facilitator superfamily domain-containing protein-2a (Mfsd2a) in physiology and pathophysiology. What do we know so far? J Neurosci Res 98(1):29–41. https://doi.org/10.1002/jnr.24327
Article CAS PubMed Google Scholar
Freund LY, Vedin I, Cederholm T, Basun H, Faxén IG, Eriksdotter M, Hjorth E, Schultzberg M, Vessby B, Wahlund LO, Salem N, Palmblad J (2014) Transfer of omega-3 fatty acids across the blood–brain barrier after dietary supplementation with a docosahexaenoic acid-rich omega-3 fatty acid preparation in patients with Alzheimer’s disease: the Omeg AD study. J Intern Med 275(4):428–436. https://doi.org/10.1111/joim.12166
Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG (2015) Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nat Genet 47(7):809–813. https://doi.org/10.1038/ng.3311
Article CAS PubMed Central PubMed Google Scholar
Harel T, Quek DQY, Wong BH, Cazenave-Gassiot A, Wenk MR, Fan H, Berger I, Shmueli D, Shaag A, Silver DL, Elpeleg O, Edvardson S (2018) Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination. Neurogenetics 19(4):227–235. https://doi.org/10.1007/s10048-018-0556-6
Ju X, Miao T, Chen H, Ni J, Han L (2021) Overcoming Mfsd2a-mediated low transcytosis to boost nanoparticle delivery to brain for chemotherapy of brain metastases. Adv Healthc Mater 10(9):e2001997. https://doi.org/10.1002/adhm.202001997
Article CAS PubMed Google Scholar
Kempińska W, Korta K, Marchaj M, Paprocka J (2022) Microcephaly in neurometabolic diseases. Children (basel). 9(1):97. https://doi.org/10.3390/children9010097
Article PubMed Central PubMed Google Scholar
Khuller K, Yigit G, Grijalva CM, Altmüller J, Thiele H, Nürnberg P et al (2021) MFSD2A-associated primary microcephaly—Expanding the clinical and mutational spectrum of this ultra-rare disease. Eur J Med Genet 64(10):104310. https://doi.org/10.1016/j.ejmg.2021.104310
Article CAS PubMed Google Scholar
Kim YS, Kim M, Choi SH, You SH, Yoo RE, Kang KM, Yun TJ, Lee ST, Moon J, Shin YW (2019) Altered vascular permeability in migraine-associated brain regions: evaluation with dynamic contrast-enhanced MRI. Radiology 292(3):713–720. https://doi.org/10.1148/radiol.2019182566
Kristofova M, Ori A, Wang ZQ (2022) Multifaceted microcephaly-related gene MCPH1. Cells 11(2):275. https://doi.org/10.3390/cells11020275
Article CAS PubMed Central PubMed Google Scholar
Liang H, Chen J (2021) Evolution of blood–brain barrier in brain diseases and related systemic nanoscale brain-targeting drug delivery strategies. Acta Pharm Sin B 11(8):2306–2325. https://doi.org/10.1016/j.apsb.2020.11.023
Matuszyk MM, Garwood CJ, Ferraiuolo L, Simpson JE, Staniforth RA, Wharton SB (2022) Biological and methodological complexities of beta-amyloid peptide: implications for Alzheimer’s disease research. J Neurochem 160(4):434–453. https://doi.org/10.1111/jnc.15538
Article CAS PubMed Google Scholar
Milanovic D, Petrovic S, Brkic M, Avramovic V, Perovic M, Ivkovic S, Glibetic M, Kanazir S (2018) Short-term fish oil treatment changes the composition of phospholipids while not affecting the expression of Mfsd2a omega-3 transporter in the brain and liver of the 5xFAD mouse model of Alzheimer’s disease. Nutrients 10(9):1250. https://doi.org/10.3390/nu10091250
Article CAS PubMed Central PubMed Google Scholar
Naveed M, Kazmi SK, Amin M, Asif Z, Islam U, Shahid K, Tehreem S (2018) Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). Genet Res (camb) 100:e7. https://doi.org/10.1017/S0016672318000046
Nguyen LN, Ma D, Shui G, Wong P, Cazenave-Gassiot A, Zhang X, Wenk MR, Goh ELK, Silver DL (2014) Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid. Nature 509:503–506. https://doi.org/10.1038/nature13241
Article CAS PubMed Google Scholar
Park YH, Shin SJ, Kim HS, Hong SB, Kim S, Nam Y, Kim JJ, Lim K, Kim JS, Kim JI, Jeon SG, Moon M (2020) Omega-3 fatty acid-type docosahexaenoic acid protects against Aβ-mediated mitochondrial deficits and pathomechanisms in Alzheimer’s disease-related animal model. Int J Mol Sci 21(11):3879. https://doi.org/10.3390/ijms21113879
Article CAS PubMed Central PubMed Google Scholar
Phan TP, Holland AJ (2021) Time is of the essence: the molecular mechanisms of primary microcephaly. Genes Dev 35:1551–1578. https://doi.org/10.1101/gad.348866.121
Article CAS PubMed Central PubMed Google Scholar
Qu C, Song H, Shen J, Xu L, Li Y, Qu C, Li T, Zhang J (2020) Mfsd2a reverses spatial learning and memory impairment caused by chronic cerebral hypoperfusion via protection of the blood–brain barrier. Front Neurosci 14:461. https://doi.org/10.3389/fnins.2020.00461
Article PubMed Central PubMed Google Scholar
Razmara E, Azimi H, Tavasoli AR, Fallahi E, Sheida SV, Eidi M, Bitaraf A, Farjami Z, Daneshmand MA, Garshasbi M (2020) Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family. Eur J Med Genet 63(12):104096. https://doi.org/10.1016/j.ejmg.2020.104096
Sánchez-Campillo M, Ruiz-Palacios M, Ruiz-Alcaraz AJ, Prieto-Sánchez MT, Blanco-Carnero JE, Zornoza M, Ruiz-Pastor MJ, Demmelmair H, Sánchez-Solís M, Koletzko B, Larqué E (2020a) Child head circumference and placental MFSD2a expression are associated to the level of MFSD2a in maternal blood during pregnancy. Front Endocrinol (lausanne) 11:38. https://doi.org/10.3389/fendo.2020.00038
Sánchez-Campillo M, Ruiz-Pastor MJ, Gázquez A, Marín-Muñoz J, Noguera-Perea F, Ruiz-Alcaraz AJ, Manzanares-Sánchez S, Antúnez C, Larqué E (2020b) Decreased blood level of MFSD2a as a potential biomarker of Alzheimer’s disease. Int J Mol Sci 21(1):70. https://doi.org/10.3390/ijms21010070
留言 (0)