Suzuki Y, Shimozawa N, Orii T
Department of Pediatrics, Gifu University School of Medicine.
Nihon Rinsho. 1993 Sep;51(9):2353-8.
Peroxisome-deficient disorders including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) are characterized by the absence of peroxisomes associated with secondary multiple enzyme deficiencies and by a defect in the neuronal migration. Collaborative complementation studies revealed the presence of at least 9 genetic groups among these disorders. Clinical phenotypes did not correlate with the genetic grouping. Responsible gene for one of these groups (group F) was determined as peroxisome assembly factor-1 (PAF-1) by the functional cloning using peroxisome-deficient CHO cell mutant. A patient of group F was a homozygote with C to T transitions in PAF-1 gene which resulted in a nonsense mutation. These results will pave the way for the elucidation of mechanisms of peroxisome biogenesis and the pathophysiology of neuronal migration.
过氧化物酶体缺乏症，包括泽尔韦格综合征（ZS）、新生儿肾上腺脑白质营养不良（NALD）和婴儿型雷夫叙姆病（IRD），其特征是缺乏与继发性多种酶缺乏相关的过氧化物酶体以及神经元迁移缺陷。合作互补研究揭示了这些疾病中至少存在9个基因群组。临床表型与基因分组不相关。通过使用过氧化物酶体缺乏的CHO细胞突变体进行功能克隆，确定了其中一个群组（F组）的致病基因是过氧化物酶体组装因子-1（PAF-1）。F组的一名患者是PAF-1基因中C到T转换的纯合子，导致无义突变。这些结果将为阐明过氧化物酶体生物发生机制和神经元迁移的病理生理学铺平道路。
