Maude M B, Anderson E O, Anderson R E
Department of Ophthalmology, Oklahoma Center for Neuroscience, University of Oklahoma Health Sciences Center, Oklahoma City, USA.
Invest Ophthalmol Vis Sci. 1998 Oct;39(11):2164-6.
Previous studies have shown that persons with retinitis pigmentosa and Usher's syndrome have lower blood levels of long-chain polyunsaturated fatty acids (PUFAs). In this study, the fatty acid composition of phospholipids from plasma and red blood cells (RBCs) was compared in persons with Usher's syndrome type I; Usher's syndrome type II; or no retinal disease (control subjects).
Blood was drawn from fasting volunteers and separated into plasma and RBCs by centrifugation. Lipids were extracted and phospholipids were obtained by thin-layer chromatography. Fatty acid methyl esters were prepared and analyzed by gas-liquid chromatography.
There were no differences in plasma or RBC phospholipid fatty acid composition between control subjects (n = 54) and persons with Usher's syndrome type II (n = 20). However, all 20- and 22-carbon PUFA levels from RBCs of persons with Usher's syndrome type I were lower than those from control subjects and persons with Usher's Syndrome type II. Likewise, plasma levels of 20:3n-6, 20: 5n-3, and 22:6n-3 were lower in Usher's syndrome type I compared with the control group. In contrast, plasma levels of 18:1n-9 and RBC levels of 16:0 and 18:1n-9 were higher in the group with Usher's syndrome type I.
Plasma and RBCs from Usher's syndrome type I, but not type II, have lower levels of long-chain PUFAs than plasma and RBCs from control subjects.
先前的研究表明，患有色素性视网膜炎和Usher综合征的患者血液中的长链多不饱和脂肪酸（PUFA）水平较低。在本研究中，对I型Usher综合征患者、II型Usher综合征患者或无视网膜疾病者（对照受试者）的血浆和红细胞（RBC）中磷脂的脂肪酸组成进行了比较。
从空腹志愿者身上采集血液，通过离心分离成血浆和红细胞。提取脂质，并通过薄层色谱法获得磷脂。制备脂肪酸甲酯并通过气液色谱法进行分析。
对照受试者（n = 54）和II型Usher综合征患者（n = 20）之间的血浆或红细胞磷脂脂肪酸组成没有差异。然而，I型Usher综合征患者红细胞中所有20碳和22碳PUFA水平均低于对照受试者和II型Usher综合征患者。同样，与对照组相比，I型Usher综合征患者血浆中20:3n-6、20:5n-3和22:6n-3的水平较低。相比之下，I型Usher综合征组血浆中18:1n-9水平以及红细胞中16:0和18:1n-9水平较高。
与对照受试者的血浆和红细胞相比，I型Usher综合征患者的血浆和红细胞中长链PUFA水平较低，而II型Usher综合征患者则不然。
