Plasma apolipoproteins in Tangier disease, as studied with two- dimensional electrophoresis

• Published in: Clinical chemistry (Baltimore, Md.) Vol. 33; no. 1; pp. 120 - 122
• Main Authors: Visvikis, S, Dumon, MF, Steinmetz, J, Manabe, T, Galteau, MM, Clerc, M, Siest, G
• Format: Journal Article
• Language: English
• Published: Washington, DC Am Assoc Clin Chem 01.01.1987; American Association for Clinical Chemistry
• Subjects: Adult; Apolipoprotein A-I; Apolipoprotein C-III; Apolipoproteins - blood; Apolipoproteins A - blood; Apolipoproteins C - blood; Biological and medical sciences; Child; Disorders of blood lipids. Hyperlipoproteinemia; Electrophoresis - methods; Humans; Hypolipoproteinemias - blood; Isoelectric Focusing; Male; Medical sciences; Metabolic diseases; Tangier Disease - blood; Tangier Disease - genetics; Human; Exploration; Lipids; Metabolic diseases; Apolipoproteins; Hyperalphalipoproteinemia; Genetic disease
• ISSN: 0009-9147; 1530-8561
• DOI: 10.1093/clinchem/33.1.120

Tangier disease is characterized by a deficiency of high-density lipoproteins and of their major protein constituent, apolipoprotein (apo) A-I. We used high-resolution two-dimensional electrophoresis to examine the principal plasma apolipoproteins (A-I, A-II, A-IV, E, C-II, and C-III) of three persons with Tangier disease, one homozygous patient and his two heterozygous children, comparing the patterns with those for healthy subjects. Characteristic abnormalities were found in the distribution of the isoproteins of apo A-I, there being a normal concentration of pro apo A-I but dramatically decreased concentrations of the other apo A-I isoproteins. We also found hitherto-undescribed polypeptide abnormalities in apo C-III: sialylated and nonsialylated forms of apo C-III appear as double spots having the same isoelectric points but different molecular masses. No other substantial difference was detected in the polypeptide distribution of the other plasma apolipoproteins.