Aguennouz M'hammed, Beccaria Marco, Purcaro Giorgia, Oteri Marianna, Micalizzi Giuseppe, Musumesci Olimpia, Ciranni Annmaria, Di Giorgio Rosa Maria, Toscano Antonio, Dugo Paola, Mondello Luigi
"Dipartimento di Medicina Clinica e Sperimentale", University of Messina, Padiglione B, I piano - AOU Policlinico G. Martino - Viale Gazzi, Messina, Italy.
Chromaleont s.r.l., c/o University of Messina, Polo Annunziata - viale Annunziata, 98168 Messina, Italy.
J Chromatogr B Analyt Technol Biomed Life Sci. 2016 Sep 1;1029-1030:157-168. doi: 10.1016/j.jchromb.2016.06.039. Epub 2016 Jul 1.
Lipid dysmetabolism disease is a condition in which lipids are stored abnormally in organs and tissues throughout the body, causing muscle weakness (myopathy). Usually, the diagnosis of this disease and its characterization goes through dosage of Acyl CoA in plasma accompanied with evidence of droplets of intra-fibrils lipids in the patient muscle biopsy. However, to understand the pathophysiological mechanisms of lipid storage diseases, it is useful to identify the nature of lipids deposited in muscle fiber. In this work fatty acids and triglycerides profile of lipid accumulated in the muscle of people suffering from myopathies syndromes was characterized. In particular, the analyses were carried out on the muscle biopsy of people afflicted by lipid storage myopathy, such as multiple acyl-coenzyme A dehydrogenase deficiency, and neutral lipid storage disease with myopathy, and by the intramitochondrial lipid storage dysfunctions, such as deficiencies of carnitine palmitoyltransferase II enzyme. A single step extraction and derivatization procedure was applied to analyze fatty acids from muscle tissues by gas chromatography with a flame ionization detector and with an electronic impact mass spectrometer. Triglycerides, extracted by using n-hexane, were analyzed by high performance liquid chromatography coupled to mass spectrometer equipped with an atmospheric pressure chemical ionization interface. The most representative fatty acids in all samples were: C16:0 in the 13-24% range, C18:1n9 in the 20-52% range, and C18:2n6 in the 10-25% range. These fatty acids were part of the most representative triglycerides in all samples. The data obtained was statistically elaborated performing a principal component analysis. A satisfactory discrimination was obtained among the different diseases. Using component 1 vs component 3 a 43.3% of total variance was explained. Such results suggest the important role that lipid profile characterization can have in supporting a correct diagnosis.
脂质代谢紊乱疾病是一种脂质在全身各器官和组织中异常储存，导致肌肉无力（肌病）的病症。通常，该疾病的诊断及其特征鉴定通过检测血浆中的酰基辅酶A，并结合患者肌肉活检中肌原纤维内脂质滴的证据来进行。然而，为了了解脂质储存疾病的病理生理机制，确定沉积在肌纤维中的脂质性质是很有用的。在这项工作中，对患有肌病综合征患者肌肉中积累的脂质的脂肪酸和甘油三酯谱进行了表征。具体而言，对患有脂质储存性肌病（如多种酰基辅酶A脱氢酶缺乏症）、伴有肌病的中性脂质储存疾病以及线粒体内脂质储存功能障碍（如肉碱棕榈酰转移酶II缺乏症）患者的肌肉活检进行了分析。采用单步提取和衍生化程序，通过配备火焰离子化检测器和电子轰击质谱仪的气相色谱法分析肌肉组织中的脂肪酸。使用正己烷提取的甘油三酯，通过配备大气压化学电离接口的液相色谱-质谱联用仪进行分析。所有样品中最具代表性的脂肪酸为：C16:0在13 - 24%范围内，C18:1n9在20 - 52%范围内，C18:2n6在10 - 25%范围内。这些脂肪酸是所有样品中最具代表性的甘油三酯的组成部分。对获得的数据进行主成分分析以进行统计学处理。在不同疾病之间获得了令人满意的区分。使用成分1与成分3解释了总方差的43.3%。这些结果表明脂质谱表征在支持正确诊断方面可以发挥重要作用。
