Steinberg Steven, Jones Richard, Tiffany Carol, Moser Ann
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Curr Protoc Hum Genet. 2008 Jul;Chapter 17:Unit 17.6. doi: 10.1002/0471142905.hg1706s58.
Peroxisomes play an important role in cellular metabolism. Defects in peroxisome assembly or of a single peroxisomal pathway are associated with a wide variety of inherited disorders, including X-linked adrenoleukodystrophy, Zellweger spectrum disorders, rhizomelic chondrodysplasia punctata, and Refsum disease. A group of peroxisome-specific biomarkers has been shown to be characteristic of specific defects. Patients with defects in peroxisome fatty acid beta-oxidation accumulate very long-chain fatty acids (VLCFA), patients with defects in plasmalogen synthesis are deficient in erythrocyte membrane plasmalogens, and patients with mislocalized pipecolic acid oxidase accumulate pipecolic acid in body fluids. This unit describes three protocols that can be used to measure plasma VLCFA, erythrocyte plasmalogens, and plasma or urine pipecolic acid by capillary gas chromatography (GC) or GC-mass spectrometry. These techniques can be used to identify the majority of patients with known neurogenetic peroxisome disorders.
过氧化物酶体在细胞代谢中发挥着重要作用。过氧化物酶体组装缺陷或单一过氧化物酶体途径缺陷与多种遗传性疾病相关，包括X连锁肾上腺脑白质营养不良、泽尔韦格谱障、肢根型点状软骨发育不良和雷夫叙姆病。一组过氧化物酶体特异性生物标志物已被证明是特定缺陷的特征。过氧化物酶体脂肪酸β氧化缺陷的患者会积累极长链脂肪酸（VLCFA），缩醛磷脂合成缺陷的患者红细胞膜缩醛磷脂缺乏，而哌啶酸氧化酶定位错误的患者体液中会积累哌啶酸。本单元介绍了三种可用于通过毛细管气相色谱（GC）或GC-质谱法测量血浆VLCFA、红细胞缩醛磷脂以及血浆或尿液中哌啶酸的方法。这些技术可用于识别大多数已知神经遗传性过氧化物酶体疾病的患者。
