Analysis of the low density lipoprotein receptor gene (LDLR) mutation spectrum in Russian familial hypercholesterolemia.

Familial hypercholesterolemia (FH) is a very common human hereditary disease in Russia and in the whole world with most of mutations localized in the gene coding for the low density lipoprotein receptor (LDLR). The object of this review is to systematize the knowledge about LDLR mutations in Russia. With this aim we analyzed all available literature on the subject and tabulated the data.

Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

The first studies of familial hypercholesterolemia (FH) in Russia go back to late 1980-ies. For more than 10 years the research in this field was carried out in Saint-Petersburg, the megapolis in the North-West Russia. Studies were focused on the search for causative mutations in low-density lipoprotein receptor gene ().

[Distribution in early mouse embryos of foreign mtDNA transmitted along the paternal lineage].

Transmission of foreign mtDNA along the paternal lineage founded by male mice (F0), and distribution of that mtDNA in their progeny at early stages of prenatal development were studied. Transmitochondrial males of F0 obtained after injection of human mitochondria into mouse zygotes has been shown to transmit foreign mtDNA to subsequent generations. Individual peculiarities among the males studied, concerning transmission of foreign mtDNA to the progeny, are likely to exist.

[New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk].

Using an automated fluorescent single-strand conformation polymorphism (SSCP) analysis of the entire coding region, promoter zone, and exon-intron junctions of the low-density lipoprotein (LDL) receptor gene, we examined 80 DNA samples of patients with familial hypercholesterolemia (FH) from Petrozavodsk. We revealed mutations that might cause FH in five probands, including FH-North Karelia (c.925-931del7) mutation and four previously unknown mutations.

[Pathophysiological grounds of reamberin application in complex treatment of disintegrated factures of pelvic bones].

The investigation showed that reamberin application in the complex treatment of patients with severe disintegrated fractures of pelvic bones is pathogenetically grounded. Despite polyetiological origin of critical conditions in the organism in this case, all these have a common pathophysiological basis of three main processes: hypoxia, intoxication, and immunosuppression. Succinic acid, which is contained in reamberin, is a substrate antihypoxant that stimulates the synthesis of restorative equivalents in the cell.

"Finnish" mutations in LDL receptor gene: a rare cause of familial hypercholesterolemia in St. Petersburg and Petrozavodsk.

The search for two mutations, FH-Helsinki and FH-North Karelia, in LDL receptor gene was carried out in patients with familial hypercholesterolemia from St. Petersburg (80 families) and Petrozavodsk (80 families) using allele-specific PCR and analysis of single-stranded DNA fragment conformation polymorphism (SSCP analysis) with subsequent sequencing. The FH-North Karelia mutation was found in one family in St.

[Distribution of foreign mitochondrial DNA during the first splittings of the transmitochondrial mouse embryos].

Distribution of human mitochondrial DNA (mtDNA) among separate murine blastomeres was analyzed during the splitting of embryos in which the suspension of human mitochondria had been injected at the one- or two-cell stage. Human mtDNA was detected by PCR with species specific primers. The total amount of the two- and four-cell murine embryos analyzed in the study was 339.

[Familial hypercholesterolemia in St. Petersburg: diversity of mutations argues against a strong founder effect].

Examination of low-density lipoprotein (LDL) receptor, its promoter, and major exon-intron boundaries from a sample of patients with familial hypercholesterolemia (FH) from 74 probands of St. Petersburg revealed 34 mutations and 8 widely spread polymorphisms at this locus. Only four mutations were considered silent, while the other 30 are likely associated with familial hypercholesterolemia (FH).

[Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma].

A collection of DNA samples obtained from primary open-angle glaucoma (POAG) patients from St. Petersburg was analyzed for single-strand conformation polymorphism (SSCP) to reveal sequence variants in exon 3 of the myocilin gene (MYOC/TIGR) and in exons 4 and 5 of the optineurin gene (OPTN), where most of the mutations revealed worldwide are located. The Q368X mutation (c.

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Background: Familial hypercholesterolemia is a human monogenic disease caused by population-specific mutations in the low density lipoprotein (LDL) receptor gene. Despite thirteen different mutations of the LDL receptor gene were reported from Russia prior to 2003, the whole spectrum of disease-causing gene alterations in this country is poorly known and requires further investigation provided by the current study.

Methods: Forty-five patients with clinical diagnosis of FH were tested for the apolipoprotein B (apoB) mutation R3500Q by restriction fragment length analysis.

[Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in the low-density lipoprotein receptor in patients with familial hypercholesterolemia from St. Petersburg].

Novel missense mutation G571E (c.1775 G > A), novel silent mutation H229H (c.750 C > T), and nonsense mutation C74X (c.

Ecology and community health in the north.

Health of a nation is a sensitive barometer of the environmental situation, especially in the North, where vulnerable nature cannot resist intensive industrial development. The geographical location and severe climatic conditions of the Republic of Sakha (Yakutia) significantly sharpen any negative impact of industrial activity on the state of the environment. The impact of ecological factors on the health of population has been studied in the case of a diamond province (Vilyuy region), where a complex of chemical pollutants from diamond mining, products of wood decay in places of flooding of the water reservoir for the Vilyuisk power station, highly mineralised underground waters and consequences of underground explosions have caused a substantial negative effect on the environment and people.

[Antioxidant status of inhabitants of Yakutia].

Presented are the results of antioxidant status of inhabitants of Yakutia. The intensity of lipid peroxydation depends on professional factors: influence of the quartz dust and smoking. Miners and smokers have high concentration of malonil dialdegide in blood.

Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia.

Familial hypercholesterolemia (FH), a monogenic disease known to be caused by low-density lipoprotein receptor (LDLR) gene mutations, results in the development of premature atherosclerosis and coronary artery disease in affected individuals. The spectrum of LDLR gene mutations in Russia is poorly known. Using polymerase chain reaction (PCR)-single-strand conformational polymorphism (SSCP) analysis, followed by DNA sequencing, we have screened selected exons of the LDLR gene in 80 unrelated St.