“Finnish” Mutations in LDL Receptor Gene: A Rare Cause of Familial Hypercholesterolemia in St. Petersburg and Petrozavodsk

Komarova, T. Yu.; Golovina, A. S.; Грудинина, Н. А.; Zakharova, F. M.; Korneva, Viktoria; Липовецкий, Б. М.; Serebrenitskaya, M.; Константинов, В. О.; Vasilyev, V. B.; Mandelshtam, M. Yu.

doi:10.1007/s10517-013-2159-4

Cited by 6 publications

(5 citation statements)

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“…We observed no founder effect in the Republic of Karelia with respect to the LDL receptor gene mutations. It seems that known mutations from the Finnish population are only a rare cause of the disease in the Karelian FH sample: allele c.925–931del7, known as FH-North Karelia, was found in only one patient, whereas allele FH-Helsinki was not detected at all [11]. …”

Section: Resultsmentioning

confidence: 99%

Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia

et al. 2017

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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 frequency of mutations in patients with LDL cholesterol > 6.5 mmol/L was more than 3 times higher than that in patients with LDL < 6.5 mmol/L. Total and LDL cholesterol levels and the frequency of coronary heart disease and myocardial infarction were higher in the group with definite FH compared to groups with probable and possible FH. Cholesterol figures in FH patients of different age and sex from the Karelian population were comparable.

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Section: Resultsmentioning

confidence: 99%

Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia

et al. 2017

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“…Use of allele-specific PCR did not allow detection of the 9.5 kb LDLR deletion prevalent in Finland, FH Helsinki c.2311 + 245_c. * 807del p.771-860delins55aa), in either the Saint-Petersburg population, or among patients with FH in Karelia (Komarova et al, 2013a).…”

Section: Studies Of Fh Genetics In Russiamentioning

confidence: 97%

“…Patients with FH were also tested for the two major Finnish mutations: the 9.5 kb deletion FH Helsinki (Aalto-Setälä et al, 1988;Aalto-Setälä, 1988) and the 7-nucleotide deletion c.925_931delCCCATCA (known as FH-North Karelia) (Koivisto et al, 1992). The first of these two mutations was detected by allele-specific PCR (Kontula et al, 1992), while for the second heteroduplex analysis and detection of single-strand conformers were conducted in LDLR exon 6 amplified by PCR (Komarova et al, 2013a). The FH Helsinki mutation was not found, while FH-North Karelia was detected in a single proband among 80, who reported he was of Finnish origin (ibid.).…”

Section: Ldlr Mutation Spectrum In Patients With Fh From Petrozavodskmentioning

confidence: 99%

Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies

et al. 2020

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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 (LDLR). Gradually the research was spread to Petrozavodsk in Karelia and in the XXI century two more centers contributed in investigations of genetics of FH, i.e., in Moscow and Novosibirsk. The best studied is the spectrum of mutations in LDLR, though genetic abnormalities in APOB and PCSK9 genes were also considered. Despite that some 40% mutations in LDLR found in Saint-Petersburg and Moscow are referred to as specific for Russian population, and this proportion is even higher in Karelia (ca. 70%), rapid introduction of NGS and intensifying genetic research all over the world result in continuous decrease of these numbers as “Slavic” mutations become documented in other countries. The samplings of genetically characterized patients in Russia were relatively small, which makes difficult to specify major mutations reflecting the national specificity of FH. Moreover, the majority of studies accomplished so far did not explore possible associations of certain mutations with ethnic origin of patients. By now the only exception is the study of Karelian population showing the absence of typical Finnish mutations in the region that borders on Finland. It can be concluded that the important primary research partly characterizing the mutation spectrum in FH patients both in the European and Siberian parts of Russia has been done. However, it seems likely that the most interesting and comprehensive genetic studies of FH in Russia, concerning various mutations in different genes and the variety of ethnic groups in this multi-national country, are still to be undertaken.

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Section: Studies Of Fh Genetics In Russiamentioning

confidence: 97%

Section: Ldlr Mutation Spectrum In Patients With Fh From Petrozavodskmentioning

confidence: 99%

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“Finnish” Mutations in LDL Receptor Gene: A Rare Cause of Familial Hypercholesterolemia in St. Petersburg and Petrozavodsk

Cited by 6 publications

References 10 publications

Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia

Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia

Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies

Table_2.docx

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