The DOI matches its Crossref record; 67 of the 67 references it cites were found in a registry or an index.
The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
Open accessAbstract
Lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes represent a group of rare genetic disorders of HDL metabolism that have been the subject of a large number of clinical, biochemical, and genetic studies. Of special interest are patients with LCAT-related disorders with severe HDL deficiency and the apparent absence of premature atherosclerosis. This finding is inconsistent with the general concept that low HDL cholesterol levels are an obligate risk factor for atherosclerosis. In this review, we describe 36 natural mutations in the LCAT gene that result in either familial LCAT deficiency (FLD) or the milder phenotype known as fish-eye disease (FED). We propose a new classification of the natural mutations of the LCAT gene that are described to date. The defects are divided into four classes based on both the clinical and biochemical characterization of the patient and data that were obtained from the functional assessment of the mutant proteins. We define FLD-associated mutations that underlie a complete or nearly complete loss of LCAT activity due to null mutations (Class 1), and missense mutations (Class 2), respectively. In addition, we distinguish two classes of FED-associated mutations (Classes 3, 4) that underlie a partial impairment of LCAT activity but differ in their lipoprotein substrate specificity. In addition, we review the evidence of atherosclerosis in subjects with LCAT deficiency syndromes. The observation that 6 (all males) of a total of 19 FED subjects suffered from premature CAD (as defined by < 55 years of age and < 60 years of age for women and men, respectively) challenges the earlier assumption that the FED phenotype is not associated with increased risk of CAD. However, premature CAD remains an unusual clinical complication in FLD subjects.
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Cites
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Cited by
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L.-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O. F., et al. (1999) · Nature Genetics · doi:10.1038/11905 · Cited by 1,687
Self-citationNewly identified loci that influence lipid concentrations and risk of coronary artery disease
Willer, C. J., Sanna, S., Jackson, A. U., Scuteri, A., Bonnycastle, L. L., Clarke, R., Heath, S. C., Timpson, N. J., Najjar, S. S., Stringham, H. M., et al. (2008) · Nature Genetics · doi:10.1038/ng.76 · Cited by 1,585
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Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol
Cohen, J. C., Kiss, R. S., Pertsemlidis, A., Marcel, Y. L., McPherson, R., & Hobbs, H. H. (2004) · Science · doi:10.1126/science.1099870 · Cited by 1,108
Kontush, A., & Chapman, M. J. (2006) · Pharmacological Reviews · doi:10.1124/pr.58.3.1 · Cited by 647
Metadata
- Authors
- Kuivenhoven, J. A., Pritchard, H., Hill, J., Frohlich, J., Assmann, G., & Kastelein, J.
- Venue
- Journal of Lipid Research
- Publisher
- Elsevier BV
- Published
- 1997-02
- Volume
- 38
- Issue
- 2
- Pages
- 191-205
- ISSN
- 0022-2275 (ISSN-L)
- OpenAlex
- W2161615797
- Cited by
- 367
- References
- 67
- FWCI
- 18.47
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Kuivenhoven, J. A., Pritchard, H., Hill, J., Frohlich, J., Assmann, G., & Kastelein, J. (1997). The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. Journal of Lipid Research. https://doi.org/10.1016/s0022-2275(20)37433-2
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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