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Mutation in the TTPA gene in the pathogenesis of AVED. An absence or deficiency of TTPA protein prevents the transfer of α-tocopherol from chylomicrons to very-low-density lipoproteins (VLDLs). Insufficient circulation of α-tocopherol contributes to vitamin E deficiency, which can increase the susceptibility to oxidative stress. TTPA, α-tocopherol transfer protein, VLDLs, very-low-density lipoproteins, ROS, reactive oxygen species.
