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Delayed Low Density Lipoprotein (LDL) Catabolism Despite a Functional Intact LDL-Apolipoprotein B Particle and LDL-Receptor in a Subject with Clinical Homozygous Familial Hypercholesterolemia

التفاصيل البيبلوغرافية
العنوان: Delayed Low Density Lipoprotein (LDL) Catabolism Despite a Functional Intact LDL-Apolipoprotein B Particle and LDL-Receptor in a Subject with Clinical Homozygous Familial Hypercholesterolemia
المؤلفون: C. K. Schewe, H B Brewer, Michael P. Manns, Robert D. Shamburek, U. Beisiegel, L A Zech, M. Wendt, Manfred Stuhrmann, M. Ebhardt, Carsten Büttner, Hartmut H.-J. Schmidt
المصدر: The Journal of Clinical Endocrinology & Metabolism. 83:2167-2174
بيانات النشر: The Endocrine Society, 1998.
سنة النشر: 1998
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Turkey, Apolipoprotein B, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Coronary Disease, Familial hypercholesterolemia, Biology, Biochemistry, Hyperlipoproteinemia Type II, Iodine Radioisotopes, chemistry.chemical_compound, Endocrinology, Germany, Internal medicine, Xanthomatosis, medicine, Humans, Apolipoproteins B, Skin, Catabolism, Cholesterol, Homozygote, Biochemistry (medical), Cholesterol, LDL, Fibroblasts, medicine.disease, Pedigree, Lipoproteins, LDL, Receptors, LDL, chemistry, Autosomal Recessive Hypercholesterolemia, Low-density lipoprotein, LDL receptor, biology.protein, lipids (amino acids, peptides, and proteins)
الوصف: We identified a 38-yr-old male patient with the clinical expression of homozygous familial hypercholesterolemia presenting as severe coronary artery disease, tendon and skin xanthomas, arcus lipoides, and joint pain. The genetic trait seems to be autosomal recessive. Interestingly, serum concentrations of cholesterol responded well to diet and statins. We had no evidence of an abnormal low density lipoprotein (LDL)-apolipoprotein B (apoB) particle, which was isolated from the patient using the U937 proliferation assay as a functional test of the LDL-binding capacity. The apoB 3500 and apoB 3531 defects were ruled out by PCR. In addition, we found no evidence for a defect within the LDL-receptor by skin fibroblast analysis, linkage analysis, single-strand conformational polymorphism and Southern blot screening across the entire LDL-receptor gene. The in vivo kinetics of radioiodinated LDL-apoB were evaluated in the proband and three normal controls, subsequently. The LDL-apoB isolated from the patient showed a normal catabolism, confirming an intact LDL particle. In contrast the fractional catabolic rate (d−1) of autologous LDL in the subject and the normal controls revealed a remarkable delayed catabolism of the patient’s LDL (0.15 vs. 0.33–0.43 d−1). In addition, the elevation of LDL-cholesterol in the patient resulted from an increased production rate with 22.8 mg/kg per day vs. 12.7–15.7 mg/kg per day. These data indicate that there is another catabolic defect beyond the apoB and LDL-receptor gene causing familial hypercholesterolemia.
تدمد: 1945-7197
0021-972X
DOI: 10.1210/jcem.83.6.4840
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d570728288894de35f309402a3500b5d
https://doi.org/10.1210/jcem.83.6.4840
Rights: OPEN
رقم الانضمام: edsair.doi.dedup.....d570728288894de35f309402a3500b5d
قاعدة البيانات: OpenAIRE
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