Pina P, Couturier M, Lemonnier F
Unite de Recherche 'Genetique et mecanismes des maladies du foie de l' enfant' INSERM U 347, Hopital de Bicetre, Le Kremlin Bicetre, France.
J Inherit Metab Dis. 1995;18(6):727-36. doi: 10.1007/BF02436764.
Fatty acid (FA) concentrations were studied in lymphocytes isolated from children with syndromic paucity of interlobular bile ducts (PILBD), Alagille syndrome. The aim of this study was to assess whether the specific FA changes previously observed in fibroblast cultures from such patients were also present in other tissues. Lymphocyte FA, obtained both from controls and patients were studied under two experimental conditions, either after separation of the mononuclear cells or after 48 hours of culture. Freshly isolated lymphocytes from patients presented few FA changes compared to the controls. However, when patient lymphocytes were placed in culture medium for 48 hours, FA changes were amplified compared to those observed in controls; the decrease in the sum of saturated and n-6 polyunsaturated FA of total lipids was significant only in patients, and the n-3 FA of phospholipids was strikingly increased in patients (p < or = 0.001), compared to controls. These results are related to those previously observed in fibroblast cultures and suggest that placing cells in culture could reveal a pre-existing cellular abnormality in patients with PILBD.
对患有小叶间胆管缺乏综合征（PILBD，又称阿拉吉耶综合征）的儿童分离出的淋巴细胞中的脂肪酸（FA）浓度进行了研究。本研究的目的是评估先前在此类患者的成纤维细胞培养物中观察到的特定FA变化是否也存在于其他组织中。在两种实验条件下研究了来自对照组和患者的淋巴细胞FA，一种是在分离单核细胞后，另一种是在培养48小时后。与对照组相比，患者新鲜分离的淋巴细胞几乎没有FA变化。然而，当将患者淋巴细胞置于培养基中培养48小时时，与对照组相比，FA变化被放大；仅在患者中，总脂质中饱和脂肪酸和n-6多不饱和脂肪酸的总和显著降低，与对照组相比，患者磷脂中的n-3脂肪酸显著增加（p≤0.001）。这些结果与先前在成纤维细胞培养物中观察到的结果相关，表明将细胞置于培养中可能揭示PILBD患者预先存在的细胞异常。
