肾上腺脑白质营养不良：培养的皮肤成纤维细胞中C26脂肪酸升高。

Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts.

作者信息

Moser H W, Moser A B, Kawamura N, Murphy J, Suzuki K, Schaumburg H, Kishimoto Y

出版信息

Ann Neurol. 1980 Jun;7(6):542-9. doi: 10.1002/ana.410070607.

Abstract

Because postmortem brain and adrenal tissue from patients with adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN) have been shown to contain abnormally large amounts of very long chain fatty acids (C24 through C30), we searched for such an abnormality in cultured skin fibroblasts. Total lipid extracts of cultured fibroblasts were hydrolyzed, their fatty acid composition was determined by gas-liquid chromatography, and the ratio of C26 to C22 fatty acids was calculated. In 29 control cell lines this ratio was 0.064 +/- 0.019. In 5 patients with autopsy-proved ALD the ratio was 0.778 +/- 0.139; in 6 patients with clinical features typical of ALD it was 0.764 +/- 0.092; in 2 patients with autopsy-proved AMN, 0.890 +/- 0.02; and in 2 patients with clinical features typical of AMN, 0.560 +/- 0.079. Abnormal ratios were observed in 4 of 5 ALD heterozygotes. In 3 patients in whom the diagnosis of ALD was suspected, an abnormal ratio (0.860) was observed in 1 and normal ratios (0.06 and 0.074) in the 2 others.

摘要

由于已证明肾上腺脑白质营养不良（ALD）或肾上腺脊髓神经病（AMN）患者的尸检脑和肾上腺组织含有异常大量的极长链脂肪酸（C24至C30），我们在培养的皮肤成纤维细胞中寻找这种异常情况。对培养的成纤维细胞的总脂质提取物进行水解，通过气液色谱法测定其脂肪酸组成，并计算C26与C22脂肪酸的比率。在29个对照细胞系中，该比率为0.064±0.019。在5例经尸检证实为ALD的患者中，该比率为0.778±0.139；在6例具有典型ALD临床特征的患者中，该比率为0.764±0.092；在2例经尸检证实为AMN的患者中，该比率为0.890±0.02；在2例具有典型AMN临床特征的患者中，该比率为0.560±0.079。在5例ALD杂合子中有4例观察到异常比率。在3例疑似ALD的患者中，1例观察到异常比率（0.860），另外2例观察到正常比率（0.06和0.074）。