Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.,Free Radical Biology and Medicine

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Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.
Free Radical Biology and Medicine ( IF 7.1 ) Pub Date : 2018-08-08 , DOI: 10.1016/j.freeradbiomed.2018.08.008
Tohru Fujiwara ₁ , Hideo Harigae ₁

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Sideroblastic anemia is a heterogeneous congenital and acquired disorder characterized by anemia and the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia (CSA) is a rare disease caused by mutations in genes involved in the heme biosynthesis, iron-sulfur [Fe-S] cluster biosynthesis, and mitochondrial protein synthesis. The most prevalent form of CSA is X-linked sideroblastic anemia, caused by mutations in the erythroid-specific δ-aminolevulinate synthase (ALAS2), which is the first enzyme of the heme biosynthesis pathway in erythroid cells. To date, a remarkable number of genetically undefined CSA cases remain, but a recent application of the next-generation sequencing technology has recognized novel causative genes for CSA. However, in most instances, the detailed molecular mechanisms of how defects of each gene result in the abnormal mitochondrial iron accumulation remain unclear. This review aims to cover the current understanding of the molecular pathophysiology of CSA.

中文翻译：

先天性铁粒幼细胞性贫血的分子病理生理学和遗传突变。

铁粒幼细胞性贫血是一种先天性异质性先天性获得性疾病，其特征在于贫血和骨髓中存在环状铁粒母细胞。先天性铁粒幼细胞性贫血（CSA）是由血红素生物合成，铁硫[Fe-S]簇生物合成和线粒体蛋白合成相关基因突变引起的罕见疾病。CSA的最普遍形式是X连锁铁粒幼细胞性贫血，是由于类红细胞特异性δ-氨基乙酰丙酸合酶（ALAS2）发生突变而引起的，该酶是类红细胞中血红素生物合成途径的第一个酶。迄今为止，仍存在大量遗传上不确定的CSA病例，但是下一代测序技术的最新应用已经认识到CSA的新型致病基因。但是，在大多数情况下，尚不清楚每个基因的缺陷如何导致线粒体铁累积异常的详细分子机制。这篇综述旨在涵盖对CSA分子病理生理学的当前理解。

更新日期：2018-11-29

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