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首页> 外文期刊>Cellular Physiology and Biochemistry >Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity
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Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity

机译：快速测定荧光素（SLC26A4）Cl- / I-转运活性的荧光方法

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Malfunction of the SLC26A4 protein leads to Pendred syndrome, characterized by sensorineural hearing loss, often associated with mild thyroid, dysfunction and goiter. It is generally assumed that SLC26A4 acts as a chloride/anion exchanger, which in the thyroid gland transports iodide, and in the inner ear contributes to the conditioning of the endolymphatic fluid. Here we describe a fast fluorometric method able to be used to functionally scrutinize SLC26A4 and its mutants described in Pendred syndrome. The validation of the method was done by functionally characterizing the chloride/iodide transport of SLC26A4, and a mutant, i.e. SLC26A4(S28R') which we previously described in a patient with sensorineural hearing loss, hypothyroidism and goiter. Using the fluorometric method we describe here we can continuously monitor and quantify the iodide or chloride amounts transported by the cells, and we found that the transport capability of the SLC26A4(S28R) mutant protein is markedly reduced if compared to wild-type SLC26A4. Copyright (c) 2006 S. Karger AG, Basel.
机译：SLC26A4蛋白的功能异常会导致Pendred综合征，其特征是感觉神经性听力丧失，通常与轻度甲状腺，功能障碍和甲状腺肿相关。通常认为SLC26A4充当氯离子/阴离子交换剂，在甲状腺中运输碘化物，而在内耳中则有助于调节内淋巴液。在这里，我们描述了一种快速的荧光分析方法，该方法可用于对SLC26A4及其在Pendred综合征中描述的突变体进行功能检查。该方法的验证是通过功能上表征SLC26A4的氯化物/碘化物转运以及突变体即SLC26A4（S28R'）的功能来完成的，我们先前在患有感音神经性听力减退，甲状腺功能减退和甲状腺肿大的患者中描述了该突变体。使用我们此处描述的荧光方法，我们可以连续监测和定量细胞所运输的碘化物或氯化物的量，并且我们发现，与野生型SLC26A4相比，SLC26A4（S28R）突变蛋白的运输能力显着降低。版权所有（c）2006 S.Karger AG，巴塞尔。

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