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Sci Rep：研究发现ANKH在颅骨骨关节发育不良中的快速降解

2018-11-01 MedSci MedSci原创

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进行性强直性蛋白（NP_473368，人类ANKH）的突变引起颅骨发育不良（CMD），其特征是颅面骨的进行性增厚和长骨中的干骺端扩大。但是，CMD的发病机制仍知之甚少，CMD的治疗仅限于外科手术。 我们已经报道，携带ANK中的F377del突变的敲入小鼠（AnkKI / KI）（NM_020332，小鼠ANK）复制了CMD的许多特征。有趣的是，AnkKO/KO小鼠中Ank基因的敲除也导致几种

进行性强直性蛋白（NP_473368，人类ANKH）的突变引起颅骨发育不良（CMD），其特征是颅面骨的进行性增厚和长骨中的干骺端扩大。但是，CMD的发病机制仍知之甚少，CMD的治疗仅限于外科手术。

我们已经报道，携带ANK中的F377del突变的敲入小鼠（AnkKI / KI）（NM_020332，小鼠ANK）复制了CMD的许多特征。有趣的是，AnkKO/KO小鼠中Ank基因的敲除也导致几种类似CMD的表型。引起CMD的突变导致由于快速降解导致ANK/ANKH蛋白的稳态水平降低。虽然野生型（wt）ANK主要与质膜、内质网（ER）、高尔基体和溶酶体相关，但CMD连接的突变体ANK异常地定位于细胞质中。蛋白酶体降解的抑制剂明显恢复了过表达的突变体ANK的水平，而溶酶体降解的抑制剂更强烈地增加了内源性CMD-突变体ANK/ANKH水平。然而，这些抑制剂不能纠正突变体ANK的错误定位。在细胞中共表达wt和CMD-突变体ANK显示CMD-突变体ANK不会对wt ANK表达和定位产生负面影响，反之亦然。

总之，该研究发现CMD突变体ANK/ANKH蛋白在细胞中是短寿命和错误定位或是CMD发病机制的一部分。

原始出处：

Jitendra Kanaujiya, Edward Bastow, et al., Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia. Sci Rep. 2018; 8: 15693.

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    2019-02-09 lisa438

    #骨关节#

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    2019-01-13 hanhaisha2020

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    2018-11-03 neurowu

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    2018-11-03 villahu

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