Mitochondrial damage results in a reversible increase in lysosomal storage material in lymphoblasts from patients with juvenile neuronal ceroid-lipofuscinosis (Batten Disease).
Mitochondrial damage results in a reversible increase in lysosomal storage material in lymphoblasts from patients with juvenile neuronal ceroid-lipofuscinosis (Batten Disease).
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线粒体损伤导致幼年神经元蜡质脂褐质沉着症（巴顿病）患者的淋巴母细胞中溶酶体储存物质可逆性增加。
DOI：
10.1002/ajmg.1320570238
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发表时间：
1995
期刊：
影响因子：
--
通讯作者：
Bennett,MJ
中科院分区：
文献类型：
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作者：
Boriack,RL;Cortinas,E;Bennett,MJ
我们之前已经证明JNCL患者的血细胞和培养的皮肤成纤维细胞中的磷脂脂肪酸含量减少。这导致了一种实验性的治疗方案，包括膳食补充多不饱和脂肪酸（PUFA）。为了研究PUFA补充剂的体外作用，我们开发了一种基于培养的淋巴母细胞系的实验室模型。我们已经转化了来自4名JNCL患者的淋巴细胞，在这些患者中，疾病与16号染色体的连锁是有信息的。在有或无抗生素（50 μg/ml庆大霉素）以及有或无PUFA补充的情况下培养来自患者和对照的细胞。在庆大霉素处理的细胞中，我们观察到许多线粒体受损。此外，与庆大霉素一起孵育的患者细胞显示出大量自发荧光储存物质的积累。在抗生素和PUFA存在下生长的疾病细胞没有表现出储存物质的显著积累;这表明线粒体损伤和自发荧光物质的储存之间存在直接关系。此外，似乎这种储存（但不是线粒体损伤）通过添加PUFA而逆转。© 1995 Wiley利斯公司
We have previously demonstrated reduced phospholipid fatty acid content in blood cells and cultured skin fibroblasts from patients with JNCL. This has led to an experimental treatment regimen consisting of dietary supplementation with polyun‐saturated fatty acids (PUFAs).In order to study the effects of PUFA supplementation in vitro, we have developed a laboratory model based upon cultured lymphoblast cell lines. We have transformed lymphocytes from four JNCL patients in whom disease linkage to chromosome 16 was informative. Cells from patients and controls were cultured with and without antibiotic (50 μg/ml gentamycin) and with and without PUFA supplementation.None of the control cells demonstrated significant storage under any of the above conditions. In gentamycin treated cells, we observed that many of the mitochondria were damaged. In addition, cells from patients incubated with gentamycin demonstrated large accumulations of autofluorescent storage material. Disease cells grown in the presence of antibiotic and PUFAs did not demonstrate a significant accumulation of storage material; this suggests a direct relationship between mitochondrial damage and storage of autofluorescent material. Moreover, it appears that this storage (but not mitochondrial damage) is reversed by the addition of PUFAs. © 1995 Wiley‐Liss, Inc.