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.