Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina, Departamento de Fisiologia, São Paulo, SP, Brazil.
Postgraduate Program of Health Sciences, São Francisco University, Bragança Paulista, SP, Brazil.
Prostaglandins Leukot Essent Fatty Acids. 2023 Sep;196:102584. doi: 10.1016/j.plefa.2023.102584. Epub 2023 Aug 1.
The incapacity to store lipids in adipose tissue in Congenital Generalized Lipodystrophy (CGL) causes hypoleptinemia, increased appetite, ectopic fat deposition and lipotoxicity. CGL patients experience shortened life expectancy. The plasma lipidomic profile has not been characterized fully in CGL, nor has the extent of dietary intake in its modulation. The present work investigated the plasma lipidomic profile of CGL patients in comparison to eutrophic individuals at the fasted state and after a breakfast meal.
Blood samples from 11 CGL patients and 10 eutrophic controls were collected after 12 h fasting (T0) and 90 min after an ad libitum fat-containing breakfast (T90). The lipidomic profile of extracted plasma lipids was characterized by non-target liquid chromatography mass spectrometry.
Important differences between groups were observed at T0 and at T90. Several molecular species of fatty acyls, glycerolipids, sphingolipids and glycerophospholipids were altered in CGL. All the detected fatty acyl molecular species, several diacylglycerols and one triacylglycerol species were upregulated in CGL. Among sphingolipids, one sphingomyelin and one glycosphingolipid species showed downregulation in CGL. Alterations in the glycerophospholipids glycerophosphoethanolamines, glycerophosphoserines and cardiolipins were more complex. Interestingly, when comparing T90 versus T0, the lipidomic profile in CGL did not change as intensely as it did for control participants.
The present study found profound alterations in the plasma lipidomic profile of complex lipids in CGL patients as compared to control subjects. A fat-containing breakfast meal did not appear to significantly influence the CGL profile observed in the fasted state. Our study may have implications for clinical practice, also aiding to a deeper comprehension of the role of complex lipids in CGL in view of novel therapeutic strategies.
先天性全身性脂肪营养不良（CGL）患者由于脂肪组织无法储存脂质，导致瘦素水平降低、食欲增加、异位脂肪沉积和脂肪毒性。CGL 患者的预期寿命缩短。CGL 患者的血浆脂质组学特征尚未完全描述，也未研究饮食摄入对其的调节作用。本研究旨在比较空腹状态和摄入含脂肪早餐 90 分钟后 CGL 患者与营养良好个体的血浆脂质组学特征。
采集 11 例 CGL 患者和 10 例营养良好对照者禁食 12 小时（T0）和摄入含脂肪早餐 90 分钟（T90）后的血样。通过非靶向液相色谱-质谱法对提取的血浆脂质的脂质组学特征进行了描述。
在 T0 和 T90 时观察到组间存在重要差异。CGL 患者的几种脂肪酸、甘油酯、鞘脂和甘油磷脂分子种类发生了改变。在 CGL 中，所有检测到的脂肪酸分子种类、几种二酰基甘油和一种三酰基甘油都上调。在鞘脂中，一种鞘磷脂和一种糖鞘脂的表达下调。甘油磷酯中的甘油磷酸乙醇胺、甘油磷酸丝氨酸和心磷脂的变化更为复杂。有趣的是，与 T0 相比，CGL 患者的脂质组学特征在 T90 时并没有发生强烈变化。
与对照组相比，本研究发现 CGL 患者复杂脂质的血浆脂质组学特征存在明显改变。含脂肪的早餐似乎并没有显著影响空腹状态下观察到的 CGL 特征。我们的研究可能对临床实践有一定意义，也有助于深入了解复杂脂质在 CGL 中的作用，为新的治疗策略提供依据。
