Peroxisomal Disorders
Peroxisomal Disorders
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DOI：
10.1007/978-981-15-1169-1_5
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发表时间：
2019-01-01
期刊：
影响因子：
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通讯作者：
Shimozawa, Nobuyuki
中科院分区：
文献类型：
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作者：
Shimozawa, Nobuyuki
过氧体病是由过氧酶体功能障碍引起的遗传性疾病，分为两类：过氧酶体定位蛋白的遗传缺陷和过氧酶体生物发生的遗传缺陷。帕金森病研究的曙光来自对齐薇格综合征的详细分析，齐薇格综合征是帕金森氏病的原型。即使在最近，新的PD仍在通过全外显子组测序分析来鉴定，这意味着PD的概念已经扩大。此外，还研究了过氧化物体在癌症和年龄相关疾病中的作用。相比之下，PD的病理生理机制和治疗方法尚未完全阐明，即使在肾上腺脑白质营养不良这一最常见的PD中，无症状患者的表型和疾病的预后也是一项艰巨的任务。本章将根据患者的临床数据描述各种类型的PD，这将对研究人员和临床医生有所帮助。我希望这一章将成为许多研究人员和临床医生共同努力克服这种顽固疾病的宝贵帮助。
Peroxisomal disorders (PD) are genetic disorders caused by peroxisome dysfunction and are classified into two groups: genetic defects in peroxisome-localized proteins and genetic defects in peroxisomal biogenesis. The dawn of PD research came with the detailed analysis of the Zellweger syndrome, the prototype of PD. Even recently, new PD are still being identified by whole-exome sequencing analysis, which means that the concept of PD has been expanding. Furthermore, the role of peroxisome in cancer and age-related diseases has also been studied. In contrast, PD pathophysiology and treatment are not clarified yet completely and even in adrenoleukodystrophy, which is the most common PD, the prognosis of phenotype and disease in pre-symptomatic patients is a difficult task.In this chapter, various types of PD based on patient clinical data will be described, which will be useful to researchers and clinicians. I hope that this chapter will be a valuable aid to many researchers and clinicians in a conjoint effort to overcome this intractable disease.