Institute for Experimental Endocrinology, Charité-Universitätsmedizin Berlin, Südring 10, CVK, Augustenburger Platz 1, 13353 Berlin, Germany.
Mol Cell Endocrinol. 2010 Jun 30;322(1-2):114-24. doi: 10.1016/j.mce.2010.01.011. Epub 2010 Jan 18.
Expression of selenoenzymes relies on the Se supply and specific cis- and trans-acting factors. Two inherited defects are caused by dysfunctional selenoproteins or insufficient biosynthesis, i.e., selenoprotein N-related myopathy and impaired selenoprotein translation secondary to hypomorphic mutations in SBP2. The latter affects biosynthesis of many selenoenzymes including the deiodinase activities. A strategy to identify individuals carrying a mutation in a specific selenoprotein gene can be based on its expression pattern, enzymatic function and respective mouse model. Alternatively, reduced serum selenium and a characteristic pattern of thyroid hormone concentrations are indicative of an impaired selenoprotein biosynthesis machinery. The failure of T4 to suppress TSH or of selenite to increase serum Se will verify this suspicion. These diagnostic tests might provide a fast, cost-effective and suitable way for identifying individuals with respective selenoprotein-dependent impairments. A careful diagnosis and thoughtful monitoring will help the affected individuals to minimize their predisposition to various diseases.
硒酶的表达依赖于硒的供应和特定的顺式和反式作用因子。两种遗传性缺陷是由功能失调的硒蛋白或生物合成不足引起的，即与硒蛋白 N 相关的肌病和 SBP2 中的低功能突变导致的硒蛋白翻译受损。后者会影响许多硒酶的生物合成，包括脱碘酶活性。确定携带特定硒蛋白基因突变个体的策略可以基于其表达模式、酶功能和相应的小鼠模型。或者，血清硒含量降低和甲状腺激素浓度的特征模式表明硒蛋白生物合成机制受损。T4 不能抑制 TSH 或亚硒酸盐不能增加血清 Se 将证实这一怀疑。这些诊断测试可能为识别具有相应硒蛋白依赖性缺陷的个体提供一种快速、具有成本效益和合适的方法。仔细的诊断和周到的监测将帮助受影响的个体最大限度地减少他们易患各种疾病的倾向。
