核糖體病變

核糖體病變（Ribosomopathy）是核糖體異常所致的遺傳疾病，為核糖體蛋白質或其他參與核糖體組裝的蛋白發生基因突變而使其無法正常組裝所致。已知核糖體病變導致的疾病包括多數的先天性純紅細胞再生障礙性貧血（英语：Diamond–Blackfan anemia）（DBA）、某些肌肉萎縮症（英语：Muscle atrophy）、X染色體偶連的先天性角化不良症（英语：dyskeratosis congenita）亞型、特雷彻·柯林斯综合征（英语：Treacher Collins syndrome）（TCS）、舒-戴二氏症候群（英语：Shwachman–Diamond syndrome）（SDS）、某些骨髓增生異常症候群、北美印第安兒童肝硬化（英语：North American Indian childhood cirrhosis）（NAIC）、孤立性先天無脾症（英语：isolated congenital asplenia）（ACAS）、Bowen-Conradi症候群（英语：Bowen–Conradi syndrome）（BWCNS）、CHARGE聯合畸形與ANE症候群等，另外還有數種癌症可能為核糖體異常所致。許多疾病的致病機理與核糖體異常激活p53途徑有關。 真核生物組裝核糖體的過程首先為在核仁中由RNA聚合酶I（英语：RNA polymerase I）轉錄產生45S的前核糖體RNA（英语：Preribosomal RNA）（pre-rRNA），此RNA經剪切後可產生32S rRNA與30S rRNA，前者可再被剪切成28S rRNA及5.8S rRNA，後者則可被剪切成18S rRNA，28S、5.8S與獨立由RNA聚合酶III轉錄產生的5S rRNA可與核糖體蛋白組合成60S核糖體亞基，18S rRNA則與核糖體蛋白組合成40S核糖体亚基，轉譯進行時兩者再進一步結合產生80S核糖體。此過程中各步驟的異常都可能影響核糖體組裝而導致核糖體病變。 Nakhoul H, Ke J, Zhou X, et al. Ribosomopathies: Mechanisms of disease. Clinical Medicine Insights: Blood Disorders. 2014, 7: 7–16. PMC 4251057 . 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