TY - JOUR

T1 - Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia

AU - Korneva, V. A.

AU - Kuznetsova, T. Yu.

AU - Bogoslovskaya, T. Yu.

AU - Polyakov, D. S.

AU - Vasilyev, V. B.

AU - Orlov, A. V.

AU - Mandelshtam, M. Yu.

PY - 2017

Y1 - 2017

N2 - Familial hypercholesterolaemia (FH) is a rare disease that tends to be diagnosed lately. In Russia, the genetic and phenotypic characteristics of the disease are not well defined. We investigated 102 patients with definite FH. In 52 of these patients (50.9%) genetic analysis was performed, revealing pathogenic mutations of the low density lipoprotein (LDL) receptor gene in 22 patients. We report here five mutations of the LDL receptor gene found in the Karelian FH sample for the first time. The detection rate of mutations in definite FH patients was 42.3%. Two groups of patients with a definite diagnosis of FH according to the Dutch Lipid Clinic Network criteria were compared: the first group had putatively functionally important LDL receptor gene mutations, while in the second group LDL receptor gene mutations were excluded by single-strand conformation polymorphism analysis. Total and LDL cholesterol levels were higher in the group with LDL receptor mutations compared to the mutation-free population.The fre

AB - Familial hypercholesterolaemia (FH) is a rare disease that tends to be diagnosed lately. In Russia, the genetic and phenotypic characteristics of the disease are not well defined. We investigated 102 patients with definite FH. In 52 of these patients (50.9%) genetic analysis was performed, revealing pathogenic mutations of the low density lipoprotein (LDL) receptor gene in 22 patients. We report here five mutations of the LDL receptor gene found in the Karelian FH sample for the first time. The detection rate of mutations in definite FH patients was 42.3%. Two groups of patients with a definite diagnosis of FH according to the Dutch Lipid Clinic Network criteria were compared: the first group had putatively functionally important LDL receptor gene mutations, while in the second group LDL receptor gene mutations were excluded by single-strand conformation polymorphism analysis. Total and LDL cholesterol levels were higher in the group with LDL receptor mutations compared to the mutation-free population.The fre

KW - familial hypercholesterolaemia

KW - LDL cholesterol

KW - mutations

KW - low density lipoprotein receptor

U2 - https://doi.org/10.1155/2017/9375818

DO - https://doi.org/10.1155/2017/9375818

M3 - Article

SP - 1

EP - 6

JO - Cholesterol

JF - Cholesterol

SN - 2090-1283

ER -