Uyama E, Kutsukake Y, Hara A, Uemura K, Uchino M, Mita S, Ando M, Taketomi T
Department of Lipid Biochemistry, Shinshu University School of Medicine, Matsumoto, Japan.
Biochem Biophys Res Commun. 1993 Jul 15;194(1):266-73. doi: 10.1006/bbrc.1993.1814.
We found that patients with mitochondrial encephalomyopathies excreted urinary phosphatidylethanolamine, cardiolipin, and phosphatidylserine most likely derived from mitochondria and sulfatide which is specific to myelin or the kidney. It is of interest that four patients with myoclonus epilepsy with ragged-red fibers and one patient with chronic progressive external ophthalmoplegia all showed qualitatively similar abnormal excretion of such urinary lipids. It is conceivable that the urinary acidic phospholipids reflect abnormalities in the mitochondrial phospholipids, which are very important for mitochondrial enzymatic activities.
我们发现，线粒体脑肌病患者排泄的尿磷脂酰乙醇胺、心磷脂和磷脂酰丝氨酸很可能源自线粒体，以及髓磷脂或肾脏特有的硫脂。有趣的是，4例伴有破碎红纤维的肌阵挛性癫痫患者和1例慢性进行性眼外肌麻痹患者均表现出此类尿脂质在性质上相似的异常排泄。可以想象，尿酸性磷脂反映了线粒体磷脂的异常，而线粒体磷脂对线粒体酶活性非常重要。
