FATTY-ACID ABNORMALITY IN ADRENOLEUKODYSTROPHY
FATTY-ACID ABNORMALITY IN ADRENOLEUKODYSTROPHY
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DOI：
10.1111/j.1471-4159.1976.tb04462.x
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发表时间：
1976-01-01
影响因子：
4.7
通讯作者：
SUZUKI, K
中科院分区：
文献类型：
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作者：
IGARASHI, M;SCHAUMBURG, HH;SUZUKI, K
最近的临床和形态学证据表明，肾上腺脑白质营养不良是一种独特的X连锁遗传疾病。本文对7例脑、肾上腺和血清脂质的脂肪酸组成进行了测定。脑和肾上腺的胆固醇酯均含有相当大比例的长于C22的脂肪酸（脑中占总脂肪酸的11.8 - 41.9%，肾上腺中占总脂肪酸的13.4 - 34.8%），而正常和病理对照标本的胆固醇酯所含脂肪酸非常少。这些极长链脂肪酸通常在脑胆固醇酯中饱和，但肾上腺胆固醇酯中也存在大量不饱和长链脂肪酸。长链脂肪酸呈钟形分布，C25或C26为最高峰。来自患者白色物质的神经节苷脂也显示极长链脂肪酸的比例增加，高达总量的50%。在大脑的半乳糖神经酰胺中也发现了类似但更温和的脂肪酸异常。脑甘油磷脂、肾上腺游离脂肪酸、甘油三酯和甘油磷脂的脂肪酸和脂肪醛均未见异常。2例患者的血清胆固醇酯未显示脑和肾上腺胆固醇酯中发现的长链脂肪酸异常。用丙酮和己烷进行的连续提取确定了脑和肾上腺中的特征性双折射物质确实是具有非常长链脂肪酸的胆固醇酯。这种类型的脂肪酸异常尚未在其他病理条件下描述，并可能代表独特的生化异常，是直接相关的基本遗传缺陷的基础肾上腺脑白质营养不良。
Recent clinical and morphological evidence established that adrenoleukodystrophy is a distinct X-linked genetic disorder. Fatty acid compositions of lipids in the brain, adrenal and serum from 7 patients were examined. Cholesterol esters of both brain and adrenal contained substantial proportions of fatty acids longer than C22 (11.8-41.9% of total in the brain and 13.4-34.8% of total in the adrenal), while cholesterol esters from normal and pathological control specimens contained very little. These very long chain fatty acids were generally saturated in brain cholesterol esters but significant amounts of unsaturated long chain fatty acids were also present in adrenal cholesterol esters. The long chain fatty acids showed bell-shaped distribution with C25 or C26 at the peak. Gangliosides from patients'' white matter also showed increased proportions of very long-chain fatty acids, up to 50% of the total. Qualitatively similar but much milder fatty acid abnormalities were also found in galactosylceramide of the brain. Fatty acids and fatty aldehydes of brain glycerophospholipids, adrenal free fatty acids, triglycerides and glycerophospholipids were not abnormal. Serum cholesterol esters from 2 patients did not show the long-chain fatty acid abnormality found in brain and adrenal cholesterol esters. Sequential extractions with acetone and hexane established that the characteristic birefringent material in the brain and adrenal is indeed cholesterol esters with very long chain fatty acids. This type of fatty acid abnormality has not been described in other pathological conditions and may represent the unique biochemical abnormality that is directly related to the fundamental genetic defect underlying adrenoleukodystrophy.