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• W2016502180 abstract "Mutations in the gene coding for the high-affinity thiamine transporter Slc19a2 underlie the clinical syndrome known as thiamine-responsive megaloblastic anemia (TRMA) characterized by anemia, diabetes, and sensorineural hearing loss. To create a mouse model of this disease, a mutant line was created with targeted disruption of the gene. Cochlear function is normal in these mutants when maintained on a high-thiamine diet. When challenged with a low-thiamine diet, Slc19a2-null mice showed 40–60 dB threshold elevations by auditory brainstem response (ABR), but only 10–20 dB elevation by otoacoustic emission (OAE) measures. Wild-type mice retain normal hearing on either diet. Cochlear histological analysis showed a pattern uncommon for sensorineural hearing loss: selective loss of inner hair cells after 1–2 weeks on low thiamine and significantly greater inner than outer hair cell loss after longer low-thiamine challenges. Such a pattern is consistent with the observed discrepancy between ABR and OAE threshold shifts. The possible role of thiamine transport in other reported cases of selective inner hair cell loss is considered." @default.
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• W2016502180 date "2006-04-27" @default.
• W2016502180 modified "2023-10-16" @default.
• W2016502180 title "Deletion of SLC19A2, the High Affinity Thiamine Transporter, Causes Selective Inner Hair Cell Loss and an Auditory Neuropathy Phenotype" @default.
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• W2016502180 doi "https://doi.org/10.1007/s10162-006-0035-x" @default.
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