Familial defect of apolipoprotein В-100: molecular disease basis and clinico-biochemical characteristics of the patients
Abstract
Aim. To identify character and prevalence of apolipoprotein (apo) B-100 gene mutation in patients with clinical diagnosis of heterozygote familial hypercholesterolemia (FH); to describe its phenotypical features in mutation carriers.
Material and methods. In 111 patients with clinical diagnosis of heterozygote FH, screening for exon 26 apo B-100 gene mutations was performed. For DNA analysis, allele-specific PCR, restriction analysis, analysis of DNA single-strand conformation polymorphism (SSCP), and sequestering of DNA fragments with anomaly electrophoretic activity were used.
Results. In patients with clinics of heterozygote FH, 4,5% had apo B-100 gene mutation. R3500Q mutation was the only apo B-100 gene structure anomaly observed in these individuals. Compared to patients with low-density lipoprotein (LDL) receptor mutation, subjects with apo B-100 defect had less manifested HCH.
Conclusion. R3500Q mutation of apo B-100 gene, together with LDL receptor mutations, partially explain high CH levels in Russian patients. Other mutations of this protein’s exon 26 could be very rare.
About the Authors
P. P. Malyshev
A.L. Myasnikov Research Institute of Clinical Cardiology, Russian Cardiology Scientific and Clinical Complex, Russian Federal Agency for Health and Social Development, Moscow
Russian Federation
Russian Federation
A. N. Meshkov
A.L. Myasnikov Research Institute of Clinical Cardiology, Russian Cardiology Scientific and Clinical Complex, Russian Federal Agency for Health and Social Development, Moscow
Russian Federation
Russian Federation
L. A. Kotova
A.L. Myasnikov Research Institute of Clinical Cardiology, Russian Cardiology Scientific and Clinical Complex, Russian Federal Agency for Health and Social Development, Moscow
Russian Federation
Russian Federation
V. V. Kukharchuk
A.L. Myasnikov Research Institute of Clinical Cardiology, Russian Cardiology Scientific and Clinical Complex, Russian Federal Agency for Health and Social Development, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Malyshev P.P., Meshkov A.N., Kotova L.A., Kukharchuk V.V. Familial defect of apolipoprotein В-100: molecular disease basis and clinico-biochemical characteristics of the patients. Cardiovascular Therapy and Prevention. 2007;6(6):40-45. (In Russ.)
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