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首页> 外文期刊>Developmental disabilities research reviews. >Peroxisome Biogenesis Disorders:Biological, Clinical and Pathophysiological Perspectives
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Peroxisome Biogenesis Disorders:Biological, Clinical and Pathophysiological Perspectives

机译：过氧化物酶体生物发生障碍：生物学，临床和病理生理学的观点

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摘要

The peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders in which peroxisome assembly is impaired, leading to multiple peroxisome enzyme deficiencies, complex developmental sequelae and progressive disabilities. Mammalian peroxisome assembly involves the protein products of 16 PEX genes; defects in 14 of these have been shown to cause PBD. Three broad phenotypic groups are described on a spectrum of severity: Zellweger syndrome is the most severe, neonatal adrenoleukodystrophy is intermediate and infantile Refsum disease is less severe. Another group is Rhizomelic chondrodys-plasia punctata spectrum. Recently, atypical phenotypes have been described, indicating that the full spectrum of these disorders remains to be identified. For most patients, there is a correlation between clinical severity and effect of the mutation on PEX protein function. Diagnosis relies on biochemical measurements of peroxisome functions and PEX gene sequencing. There are no targeted therapies, although management protocols have been suggested and research endeavors continue. In this review we will discuss peroxisome biology and PBD, and research contributions to pathophysiology and treatment.
机译：过氧化物酶体生物发生障碍（PBD）是常染色体隐性遗传疾病的异质性组，其中过氧化物酶体装配受损，导致多种过氧化物酶体酶缺乏症，复杂的发育后遗症和进行性残疾。哺乳动物过氧化物酶体组装涉及16个PEX基因的蛋白质产物。已显示其中14个缺陷会导致PBD。在严重程度范围内描述了三个广泛的表型组：Zellweger综合征最严重，新生儿肾上腺皮质营养不良处于中等水平，婴儿Refsum病较轻。另一类是根茎软骨病-点状点状谱。最近，已经描述了非典型表型，表明这些疾病的全谱仍有待确定。对于大多数患者，临床严重程度与突变对PEX蛋白功能的影响之间存在相关性。诊断取决于过氧化物酶体功能的生化测量和PEX基因测序。尽管已经提出了治疗方案并且研究工作仍在继续，但是没有针对性的治疗方法。在这篇综述中，我们将讨论过氧化物酶体生物学和PBD，以及对病理生理学和治疗的研究贡献。

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