Chediak-Higashi syndrome
Chediak-Higashi syndrome
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DOI：
10.1097/moh.0b013e3282f2bcce
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发表时间：
2008-01-01
影响因子：
3.2
通讯作者：
Ward, Diane McVey
中科院分区：
文献类型：
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作者：
Kaplan, Jerry;De Domenico, Ivana;Ward, Diane McVey
综述目的Chediak-Higashi综合征是一种罕见的常染色体隐性遗传病，早在50多年前就已被描述。患者表现为色素减退、反复感染、轻度凝血缺陷和各种神经问题。治疗方法是骨髓移植，在治疗血液和免疫缺陷方面有效，但神经问题仍然存在。CHS1/Lyst基因早在10多年前就被发现，并且在所有真核生物中都存在同源的CHS1/Lyst基因。这篇综述将讨论CHS1/Lyst/Beig.的临床方面的研究进展和CHS1/Lyst/Beig.最近的发现Chediak-Higashi综合征的临床报告已发现整个CHS1/Lyst基因的突变。突变的性质可以预测疾病的严重程度。在过去的十年里，CHS1/Lyst蛋白家族已经被用模型生物、双杂交分析、过表达表型和显性阴性来分析。这些研究表明CHS1/Lyst蛋白参与囊泡融合或分裂。摘要虽然CHS是一种罕见的疾病，但切迪亚克样蛋白家族为囊泡运输的调节提供了洞察力。了解调控囊泡运输的基本机制将提供有关CHS1/Lyst丢失如何影响血液学、免疫学和神经学过程的基本信息。
Purpose of reviewChediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago. Patients show hypopigmentation, recurrent infections, mild coagulation defects and varying neurologic problems. Treatment is bone marrow transplant, which is effective in treating the hematologic and immune defects, however the neurologic problems persist. The CHS1/LYST gene was identified over 10 years ago and homologous CHS1/LYST genes are present in all eukaryotes. This review will discuss the advances made in understanding the clinical aspects of the syndrome and the function of CHS1/LYST/Beige.Recent findingsClinical reports of Chediak-Higashi syndrome have identified mutations throughout the CHS1/LYST gene. The nature of the mutation can be a predictor of the severity of the disease. Over the past decade the CHS1/LYST family of proteins has been analyzed using model organisms, two-hybrid analysis, overexpression phenotypes and dominant negatives. These studies suggest that the CHS1/LYST protein is involved in either vesicle fusion or fission.SummaryAlthough CHS is a rare disease, the Chediak-like family of proteins is providing insight into the regulation of vesicle trafficking. Understanding the basic mechanisms that govern vesicle trafficking will provide essential information regarding how loss of CHS1/LYST affects hematologic, immunologic and neurologic processes.