Hoffman D R, Uauy R, Birch D G
Retina Foundation of the Southwest, Dallas, TX 75231.
Exp Eye Res. 1993 Sep;57(3):359-68. doi: 10.1006/exer.1993.1135.
Fatty acid profiles were determined in red blood cell (RBC), plasma lipids and lipid fractions from 50 patients with autosomal dominant retinitis pigmentosa (ADRP) and 20 normal-sighted controls. In plasma of affected patients, significant increases in omega 6 long-chain derivatives compared to controls resulted in elevated fatty acid unsaturation whereas, in RBCs, significant decreases in the levels of omega 6 and omega 3 long-chain polyunsaturates and a reduced unsaturation index were demonstrated (P < 0.01). The disproportionate levels of long-chain fatty acids in plasma vs. RBCs were consistent with abnormal function of acyl group transfer from plasma lipids to target tissues such as RBCs or, possibly, retina. Metabolic lipid anomalies were evaluated in two sub-groups of patients with ADRP; ten with the highest and ten with the lowest RBC lipid levels of the omega 3 fatty acid, docosahexaenoic acid (DHA). Fatty acid product/precursor relationships in the sub-groups revealed reduced chain elongation and omega 3 fatty acid desaturation associated with reduced ratios of rod-to-cone electroretinographic amplitudes. Based on these results, we suggest that the heterogenic ADRP population includes a sub-group of patients characterized by abnormal fatty acid metabolism that may effect membrane structure and visual function.
对50例常染色体显性遗传性视网膜色素变性（ADRP）患者及20名视力正常的对照者的红细胞（RBC）、血浆脂质及脂质组分中的脂肪酸谱进行了测定。在患病患者的血浆中，与对照组相比，ω-6长链衍生物显著增加，导致脂肪酸不饱和度升高；而在红细胞中，ω-6和ω-3长链多不饱和脂肪酸水平显著降低，不饱和度指数降低（P < 0.01）。血浆与红细胞中长链脂肪酸水平的不均衡与从血浆脂质到诸如红细胞或可能还有视网膜等靶组织的酰基转移功能异常相一致。对ADRP患者的两个亚组进行了代谢性脂质异常评估；一组是ω-3脂肪酸二十二碳六烯酸（DHA）的红细胞脂质水平最高的10例患者，另一组是该水平最低的10例患者。亚组中的脂肪酸产物/前体关系显示链延长和ω-3脂肪酸去饱和降低，与视杆细胞与视锥细胞视网膜电图振幅比值降低相关。基于这些结果，我们认为异质性的ADRP人群包括一个以脂肪酸代谢异常为特征的患者亚组，这种异常可能影响膜结构和视觉功能。
