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Gel isoelectric focusing method for specific diagnosis of familial hyperlipoproteinemia type 3
Abstract
We describe a gel isoelectric focusing procedure for resolving into at least five bands the arginine-rich protein of very-low-density lipoproteins, and use the method in diagnosis of hyperlipoproteinemia type 3. We find that deficiency of one band, designated E3, relative to E2, expressed as an E3/E2 ratio less than or equal to 0.3, is specifically associated with hyperlipoproteinemia type 3 as diagnosed by traditional criteria in a large family study. In addition, we used the procedure to test 47 referral samples with demonstrable beta-migrating very-low-density liproprotein grouped by very-low-density lipoprotein cholesterol/total triglyceride ratios of greater than or equal to 0.3, from 0.25 to 0.3, and less than 0.25. All 24 of the first group, three of six in the second, and only one of 17 in the third had E3/E2 ratios of less than or equal to 0.3. Also, two normolipidemic children, without detectable lipoprotein abnormalities but related to subjects with hyperlipoproteinemia type 3, had E3/E2 ratios of less than or equal to 0.3. Use of our procedure improves the specificity of diagnosis and allows sensitive detection of asymptomatic subjects who may be at risk of developing the disorder.
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Positively charged arginines raise the net charge and thus the isoelectric point of ApoE.
“The positively charged arginines raise the net charge and thus the isoelectric point (IEP) of the protein (Eto et al., 1985; Warnick et al., 1979).”
From NHE6 depletion corrects ApoE4-mediated synaptic impairments and reduces amyloid plaque load (2021) · cites this paper as Warnick et al., 1979
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Brown, G., Albers, J. J., Fisher, L. D., Schaefer, S. M., Lin, J.-T., Kaplan, C., Zhao, X.-Q., Bisson, B. D., Fitzpatrick, V. F., & Dodge, H. T. (1990) · New England Journal of Medicine · doi:10.1056/nejm199011083231901 · Cited by 2,159
Self-citationProposed nomenclature of apoE isoproteins, apoE genotypes, and phenotypes
Zannis, V. I., Breslow, J. L., Utermann, G., Mahley, R. W., Weisgraber, K. H., Havel, R. J., Goldstein, J. L., Brown, M. S., Schonfeld, G., Hazzard, W. R., et al. (1982) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)38094-9 · Cited by 436
Self-citationTriglyceride-lowering effect of marine polyunsaturates in patients with hypertriglyceridemia.
Sanders, T. A., Sullivan, D. R., Reeve, J., & Thompson, G. R. (1985) · Arteriosclerosis: An Official Journal of the American Heart Association, Inc. · doi:10.1161/01.atv.5.5.459 · Cited by 212
Wardell, M. R., Brennan, S. O., Janus, E. D., Fraser, R., & Carrell, R. W. (1987) · Journal of Clinical Investigation · doi:10.1172/jci113096 · Cited by 159
Delayed post-prandial lipid metabolism in subjects with intra-abdominal visceral fat accumulation
Taira, Hikita, Kobayashi, Bujo, Takahashi, Murano, Morisaki, & Saito (1999) · European Journal of Clinical Investigation · doi:10.1046/j.1365-2362.1999.00454.x · Cited by 47
NHE6 depletion corrects ApoE4-mediated synaptic impairments and reduces amyloid plaque load
Pohlkamp, T., Xian, X., Wong, C. H., Durakoglugil, M. S., Werthmann, G. C., Saido, T. C., Evers, B. M., White, C. L., Connor, J., Hammer, R. E., et al. (2021) · eLife · doi:10.7554/elife.72034 · Cited by 46
Identification of Human Apolipoprotein E Variant Gene: Apolipoprotein E7 (Glu244,245↑Lys244,245)1
Maeda, H., Nakamura, H., Kobori, S., Okada, M., Mori, H., Niki, H., Ogura, T., & Hiraga, S. (1989) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a122618 · Cited by 29
FEUSSNER, G., FUNKE, H., WENG, W., ASSMANN, G., LACKNER, K. J., & ZIEGLER, R. (1992) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.1992.tb01511.x · Cited by 28
Feussner, G., Scharnagl, H., Scherbaum, C., Acar, J., Dobmeyer, J., Lohrmann, J., Wieland, H., & März, W. (1996) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)39106-9 · Cited by 21
Metadata
- Authors
- Warnick, G. R., Mayfield, C., Albers, J. J., & Hazzard, W. R.
- Venue
- Clinical Chemistry
- Publisher
- Oxford University Press (OUP)
- Published
- 1979-02-01
- Volume
- 25
- Issue
- 2
- Pages
- 279-284
- ISSN
- 0009-9147
- 1530-8561
- Cited by
- 182
- References
- 0
- Language
- en
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