Decreased Erythrocyte and Platelet Phospholipids and Fatty Acids in Juvenile Neuronal Ceroid-Lipofuscinosis (Batten Disease)
Decreased Erythrocyte and Platelet Phospholipids and Fatty Acids in Juvenile Neuronal Ceroid-Lipofuscinosis (Batten Disease)
复制标题
幼年神经元蜡质脂褐质沉着症（巴顿病）中红细胞和血小板磷脂和脂肪酸减少
作者：
M. Bennett;J. H. Galloway;I. Cartwright;W. Gillis;G. Hosking
分析了6例青少年神经元蜡样脂褐质沉积症（Spielmeyer-Vogt，Batten病，JNCL）患者红细胞和血小板中的总细胞和磷脂脂肪酸。结果进行了比较，年龄匹配的控制。总脂肪酸和磷脂类，磷脂酰胆碱（PC），磷脂酰乙醇胺（PE）和磷脂酰丝氨酸（PS）的量显着减少的患者时，与细胞蛋白。红细胞中总脂肪酸减少27%，血小板中减少50%。红细胞PC减少36%，PE减少44%，PS减少27%。磷脂脂肪酸没有重大的定性差异，表明减少磷脂的脂肪酸组成是正常的，并且在JNCL的这些细胞中存在广泛的磷脂缺乏症。这与营养状况无关。Batten病的发病机制可能与这种明显的磷脂缺乏引起的膜功能异常有关。
Total cellular and phospholipid fatty acids were analyzed in erythrocytes and platelets from six patients with juvenile neuronal ceroid-lipofuscinosis (Spielmeyer-Vogt, Batten disease, JNCL). The results were compared to those of age-matched controls. The amounts of total fatty acid and the phospholipid classes, phosphatidylcholine (PC), phosphatidylethanolamine (PE), and phosphatidylserine (PS) were significantly decreased in patients when related to cellular protein. The reductions in total fatty acids were 27% in erythrocytes and 50% in platelets. Erythrocyte PC reduction was 36%, PE was 44% and PS 27%. There were no major qualitative differences in the phospholipid fatty acids, suggesting that the fatty acid composition of the reduced phospholipid was normal, and that there is a generalized phospholipid deficiency in these cells in JNCL. This was not related to nutritional status. The pathogenesis of Batten disease may be related to abnormal membrane function resulting from this marked phospholipid deficiency.
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Batten 病中组织蛋白酶 B 活性异常。
DOI：
10.1002/ajmg.1320310624
发表时间：
1988
期刊：
American journal of medical genetics. Supplement
影响因子：
--
作者：
Dawson,G;Glaser,PT
通讯作者：
Glaser,PT
神经元蜡样质脂褐质沉积症亚型的临床分类。
DOI：
10.1002/ajmg.1320310608
发表时间：
1988
期刊：
American journal of medical genetics. Supplement
影响因子：
--
作者：
Boustany,RM;Alroy,J;Kolodny,EH
通讯作者：
Kolodny,EH
DOI：
--
发表时间：
1986
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Palmer,DN;Husbands,DR;Winter,PJ;Blunt,JW;Jolly,RD
通讯作者：
Jolly,RD
正常绵羊和患有蜡质脂褐质沉着症的绵羊大脑中的磷脂脂肪酸。
DOI：
10.1016/0005-2760(85)90151-1
发表时间：
1985
期刊：
Biochimica et biophysica acta
影响因子：
--
作者：
Palmer,DN;Husbands,DR;Jolly,RD
通讯作者：
Jolly,RD
DOI：
--
发表时间：
1989
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Palmer,DN;Martinus,RD;Cooper,SM;Midwinter,GG;Reid,JC;Jolly,RD
通讯作者：
Jolly,RD