铁硫蛋白的生物合成及相关疾病

铁硫蛋白是以铁硫簇为辅基，相对分子质量较小的一类蛋白质．它广泛存在于各种生物体内，参与电子传递、能量代谢以及基因表达调控等重要生理过程．其生物合成过程复杂，并且从细菌到人类高度保守．在真核细胞内，铁硫蛋白的组装由线粒体铁硫簇组装系统（mitochondrial iron sulfur cluster assembly system，mitochondrial ISC assembly system）和细胞质铁硫簇组装器（cytosolic iron sulfur cluster assembly，CIA）完成．研究发现，铁硫蛋白的合成异常可导致弗里德赖希共济失调(friedreich ataxia，FRDA)、遗传性肌病和铁粒幼细胞性贫血等多种罕见疾病，这些疾病严重影响个体的生活质量和寿命．因此，深入了解铁硫蛋白的结构和生物合成过程，对研究其生物学功能与相关疾病的诊断和治疗有重要意义．

Iron-Sulfur Proteins Biogenesis and Related Diseases

Iron-sulfur proteins are a category of the low molecular weight proteins, which all contain iron-sulfur clusters as their prosthetic groups. They widely exist in various organisms, and perform crucial functions in multiple intracellular processes, such as electron transfer, energy metabolism, and gene expression. The biogenesis of iron sulfur proteins is extremely complicated and highly conserved from bacteria to human. In eukaryotic cells, the biogenesis of iron sulfur proteins mainly depends on the mitochondrial iron-sulfur clusters (ISC) assembly system and cytosolic iron-sulfur cluster assembly (CIA). It is now clear that several rare human diseases are attributable to defect in the basic process of iron sulfur proteins biogenesis, such as friedreich ataxia(FRDA), hereditary myopathy and sideroblastic anemia, which seriously affect the quality of life and the longevity of the patients. Therefore, comprehensive understanding the structure and biogenesis of iron sulfur proteins is important to explore their biological functions, as well as to diagnose and treat the related diseases.