过氧化物酶体缺乏症患者培养成纤维细胞中过氧化物酶体的超微结构和细胞化学显示
Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders.
作者信息
Arias J A, Moser A B, Goldfischer S L
出版信息
J Cell Biol. 1985 May;100(5):1789-92. doi: 10.1083/jcb.100.5.1789.
Abstract
The oxidation of very long chain fatty acids and synthesis of ether glycerolipids (plasmalogens) occurs mainly in peroxisomes. Zellweger's cerebrohepatorenal syndrome (CHRS) is a rare, inherited metabolic disease characterized by an apparent absence of peroxisomes, an accumulation of very long chain fatty acids, and a decrease of plasmalogens in tissues and cultured fibroblasts from these patients. As peroxisomes are ubiquitous in mammalian cells, we examined normal and CHRS-cultured fibroblasts for their presence, using an electron microscopic histochemical procedure for the subcellular localization of catalase, a peroxisomal marker enzyme. Small (0.08-0.20 micron) round or slightly oval peroxisomes were seen in both normal and CHRS fibroblasts. The number of peroxisomes was analyzed morphometrically and found to be significantly reduced in all CHRS cell lines. These results are discussed in relation to the underlying defect in peroxisomal function and biogenesis in this disease.
摘要
极长链脂肪酸的氧化和醚甘油脂质（缩醛磷脂）的合成主要发生在过氧化物酶体中。泽尔韦格脑肝肾综合征（CHRS）是一种罕见的遗传性代谢疾病，其特征是明显缺乏过氧化物酶体、极长链脂肪酸积累以及这些患者的组织和培养成纤维细胞中缩醛磷脂减少。由于过氧化物酶体在哺乳动物细胞中普遍存在，我们使用一种用于过氧化氢酶（一种过氧化物酶体标记酶）亚细胞定位的电子显微镜组织化学方法，检查了正常和成纤维细胞培养的CHRS细胞中过氧化物酶体的存在情况。在正常和成纤维细胞培养的CHRS细胞中均可见小（0.08 - 0.20微米）的圆形或略椭圆形过氧化物酶体。通过形态计量学分析过氧化物酶体的数量，发现所有CHRS细胞系中的过氧化物酶体数量均显著减少。本文结合该疾病过氧化物酶体功能和生物发生的潜在缺陷对这些结果进行了讨论。
相似文献
1
Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders.过氧化物酶体缺乏症患者培养成纤维细胞中过氧化物酶体的超微结构和细胞化学显示
J Cell Biol. 1985 May;100(5):1789-92. doi: 10.1083/jcb.100.5.1789.
2
Peroxisomal organization in normal and cerebrohepatorenal (Zellweger) syndrome fibroblasts.正常及脑肝肾（泽韦格）综合征成纤维细胞中的过氧化物酶体组织
Proc Natl Acad Sci U S A. 1985 Oct;82(19):6556-60. doi: 10.1073/pnas.82.19.6556.
3
Stereological analysis of peroxisomes and mitochondria in intestinal epithelium of patients with peroxisomal deficiency disorders: Zellweger's syndrome and neonatal-onset adrenoleukodystrophy.过氧化物酶体缺乏症患者（泽尔韦格综合征和新生儿型肾上腺脑白质营养不良）肠道上皮中过氧化物酶体和线粒体的体视学分析
Am J Anat. 1986 Sep;177(1):107-18. doi: 10.1002/aja.1001770112.
4
Peroxisome mosaicism in the livers of peroxisomal deficiency patients.过氧化物酶体缺乏症患者肝脏中的过氧化物酶体嵌合体。
Hepatology. 1995 Aug;22(2):497-504.
5
Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids.假性婴儿型雷夫叙姆病：过氧化氢酶缺乏的过氧化物酶体颗粒，伴有缩醛磷脂合成和脂肪酸氧化部分缺陷。
Pediatr Res. 1993 Sep;34(3):270-6. doi: 10.1203/00006450-199309000-00006.
6
7
Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts.婴儿型植烷酸贮积病中的过氧化物酶体：皮肤成纤维细胞的细胞化学研究
J Inherit Metab Dis. 1986;9(4):321-34. doi: 10.1007/BF01800481.
8
Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.一名患有过氧化物酶体β氧化缺陷的男婴出现新生儿惊厥和严重肌张力减退。
Neuromuscul Disord. 1992;2(3):217-24. doi: 10.1016/0960-8966(92)90009-u.
9
[Diagnosis of Zellweger's cerebrohepatorenal syndrome].[脑肝肾综合征（泽尔韦格综合征）的诊断]
Tijdschr Kindergeneeskd. 1984 Dec;52(6):231-8.
10
Pipecolic acid is oxidized by renal and hepatic peroxisomes. Implications for Zellweger's cerebro-hepato-renal syndrome (CHRS).哌可酸被肾和肝过氧化物酶体氧化。对泽尔韦格脑肝肾综合征（CHRS）的影响。
Exp Cell Res. 1986 May;164(1):267-71. doi: 10.1016/0014-4827(86)90475-1.
引用本文的文献
1
Super-Resolution Imaging of Peroxisomal Proteins Using STED Nanoscopy.利用 STED 纳米显微镜对过氧化物酶体蛋白进行超分辨率成像。
Methods Mol Biol. 2023;2643:65-84. doi: 10.1007/978-1-0716-3048-8_5.
2
Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes.超分辨率成像揭示了泽尔韦格综合征幽灵和野生型过氧化物酶体的亚衍射表型。
Sci Rep. 2018 May 17;8(1):7809. doi: 10.1038/s41598-018-24119-2.
3
Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility.Tysnd1 基因缺失的小鼠会干扰 PTS2 酶的过氧化物酶体定位，导致脂质代谢异常和雄性不育。
PLoS Genet. 2013;9(2):e1003286. doi: 10.1371/journal.pgen.1003286. Epub 2013 Feb 14.
4
Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.人类PEX3基因突变导致过氧化物酶体膜合成缺陷，引发泽尔韦格综合征G型。
Am J Hum Genet. 2000 Oct;67(4):967-75. doi: 10.1086/303071. Epub 2000 Aug 24.
5
Biochemistry of peroxisomes in health and disease.健康与疾病状态下过氧化物酶体的生物化学
Mol Cell Biochem. 1997 Feb;167(1-2):1-29. doi: 10.1023/a:1006883229684.
6
In situ heterogeneity of peroxisomal oxidase activities: an update.过氧化物酶体氧化酶活性的原位异质性：最新进展。
Histochem J. 1996 Jun;28(6):401-29. doi: 10.1007/BF02331433.
7
Isolation and characterization of mutants impaired in the selective degradation of peroxisomes in the yeast Hansenula polymorpha.多形汉逊酵母中过氧化物酶体选择性降解受损突变体的分离与鉴定
J Bacteriol. 1995 Jan;177(2):357-63. doi: 10.1128/jb.177.2.357-363.1995.
8
Presence of cytoplasmic factors functional in peroxisomal protein import implicates organelle-associated defects in several human peroxisomal disorders.在过氧化物酶体蛋白输入过程中发挥作用的细胞质因子的存在，表明在几种人类过氧化物酶体疾病中存在细胞器相关缺陷。
J Clin Invest. 1993 Nov;92(5):2462-8. doi: 10.1172/JCI116854.
9
Platelet-activating factor: mediator of the third pathway of platelet aggregation? A study in three patients with deficient platelet-activating factor synthesis.血小板活化因子：血小板聚集第三条途径的介质？对三名血小板活化因子合成缺陷患者的研究。
J Clin Invest. 1987 Feb;79(2):344-50. doi: 10.1172/JCI112818.
10
Detection of a homologous series of C26-C38 polyenoic fatty acids in the brain of patients without peroxisomes (Zellweger's syndrome).在无过氧化物酶体患者（齐韦格综合征）大脑中检测到一系列C26 - C38多烯脂肪酸。
Biochem J. 1986 Apr 15;235(2):607-10. doi: 10.1042/bj2350607.
本文引用的文献
1
The use of lead citrate at high pH as an electron-opaque stain in electron microscopy.在电子显微镜检查中，将高pH值的柠檬酸铅用作电子不透明染色剂。
J Cell Biol. 1963 Apr;17(1):208-12. doi: 10.1083/jcb.17.1.208.
2
3
Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathway.通过酰基二羟基丙酮磷酸途径在过氧化物酶体中进行甘油olipid生物合成。 （注：原文中“甘油olipid”可能有误，推测应为“甘油脂质” glycerolipid ）
Ann N Y Acad Sci. 1982;386:170-82. doi: 10.1111/j.1749-6632.1982.tb21415.x.
4
Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).无过氧化物酶体婴儿（泽尔韦格综合征）组织中的严重缩醛磷脂缺乏。
Nature. 1983;306(5938):69-70. doi: 10.1038/306069a0.
5
Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.二十四烷酸在过氧化物酶体中被氧化：对泽尔韦格脑肝肾综合征和肾上腺脑白质营养不良的影响。
Proc Natl Acad Sci U S A. 1984 Jul;81(13):4203-7. doi: 10.1073/pnas.81.13.4203.
6
Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes.齐-韦二氏综合征中催化甘油醚脂质生物合成的酶缺乏。一种涉及过氧化物酶体缺失的新型代谢疾病。
N Engl J Med. 1984 Oct 25;311(17):1080-3. doi: 10.1056/NEJM198410253111704.
7
Ultrastructure of the liver in th cerebrohepatorenal syndrome of Zellweger.齐-韦二氏脑肝肾综合征时肝脏的超微结构
Ultrastruct Pathol. 1983 Sep-Oct;5(2-3):135-44. doi: 10.3109/01913128309141833.
8
Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome.过氧化物酶体酶活性及过氧化氢酶在齐-韦二氏综合征中的细胞内分布
Biochem Biophys Res Commun. 1984 Sep 28;123(3):1054-61. doi: 10.1016/s0006-291x(84)80240-5.
9
Lipid composition of the normal human brain: gray matter, white matter, and myelin.正常人类大脑的脂质组成：灰质、白质和髓磷脂。
J Lipid Res. 1965 Oct;6(4):537-44.
10
Small cytoplasmic bodies in the loop of Henle and distal convoluted tubule that resemble peroxisomes.在髓袢和远曲小管中类似过氧化物酶体的小细胞质体。
J Histochem Cytochem. 1971 Jan;19(1):56-62. doi: 10.1177/19.1.56.
Zotero 插件