Analysis of lipid profile in lipid storage myopathy

Fatty acids; Gas chromatography; Intra-muscular triglycerides; Lipid storage myopathy; Mass spectrometry; Non-aqueous reversed-phase liquid chromatography; Atmospheric ionization; Atmospheric pressure; Biopsy; Chemical analysis; Chromatography; Diagnosis; Digital storage; Hexane; High performance liquid chromatography; Histology; Ionization; Ionization of gases; Ionization of liquids; Lipids; Liquid chromatography; Mass spectrometers; Muscle; Phase interfaces; Principal component analysis; Spectrometers; Tissue; Tissue engineering; Vegetable oils; Atmospheric pressure chemical ionization; Carnitine palmitoyltransferase; Derivatization procedures; Flame ionization detectors; Pathophysiological; Reversed phase liquid-chromatography; Single-step extractions; Article; Adolescent; Adult; Child; Chromatography, High Pressure Liquid; Chromatography, Reverse-Phase; Female; Gas Chromatography-Mass Spectrometry; Humans; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Muscle, Skeletal; Muscular Dystrophies; Triglycerides; Young Adult

Abstract :

[en] 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. © 2016 Elsevier B.V.

Disciplines :

Chemistry
Anatomy (cytology, histology, embryology...) & physiology

Author, co-author :

Aguennouz, M.; “Dipartimento di Medicina Clinica e Sperimentale”, University of Messina, Padiglione B, I piano – AOU Policlinico G. Martino – Viale Gazzi, Messina, Italy

Beccaria, M.; Chromaleont s.r.l., c/o University of Messina, Polo Annunziata – viale Annunziata, Messina, 98168, Italy

Purcaro, Giorgia ; Université de Liège - ULiège > Agronomie, Bio-ingénierie et Chimie (AgroBioChem) > Chimie des agro-biosystèmes

Oteri, M.; Dipartimento di Scienze Chimiche, Biologiche, Farmaceutiche ed Ambientali, University of Messina, Polo Annunziata – viale Annunziata, Messina, 98168, Italy

Micalizzi, G.; Chromaleont s.r.l., c/o University of Messina, Polo Annunziata – viale Annunziata, Messina, 98168, Italy

Musumesci, O.; “Dipartimento di Medicina Clinica e Sperimentale”, University of Messina, Padiglione B, I piano – AOU Policlinico G. Martino – Viale Gazzi, Messina, Italy

Ciranni, A.; “Dipartimento di Medicina Clinica e Sperimentale”, University of Messina, Padiglione B, I piano – AOU Policlinico G. Martino – Viale Gazzi, Messina, Italy

Di Giorgio, R. M.; “Dipartimento di Medicina Clinica e Sperimentale”, University of Messina, Padiglione B, I piano – AOU Policlinico G. Martino – Viale Gazzi, Messina, Italy

Toscano, A.; “Dipartimento di Medicina Clinica e Sperimentale”, University of Messina, Padiglione B, I piano – AOU Policlinico G. Martino – Viale Gazzi, Messina, Italy

Dugo, P.; Chromaleont s.r.l., c/o University of Messina, Polo Annunziata – viale Annunziata, Messina, 98168, Italy, Dipartimento di Scienze Chimiche, Biologiche, Farmaceutiche ed Ambientali, University of Messina, Polo Annunziata – viale Annunziata, Messina, 98168, Italy

Mondello, L.; Chromaleont s.r.l., c/o University of Messina, Polo Annunziata – viale Annunziata, Messina, 98168, Italy, Dipartimento di Scienze Chimiche, Biologiche, Farmaceutiche ed Ambientali, University of Messina, Polo Annunziata – viale Annunziata, Messina, 98168, Italy

Language :

English

Title :

Analysis of lipid profile in lipid storage myopathy

Publication date :

2016

Journal title :

Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences

ISSN :

1570-0232

eISSN :

1873-376X

Publisher :

Elsevier

Volume :

1029-1030

Pages :

157-168

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 17 January 2019

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