Familial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorder

Блохина, А. В.; Ершова, А. И.; Мешков, А. Н.; Драпкина, О. М.

doi:10.15829/1728-8800-2021-2893

Cited by 7 publications

(2 citation statements)

References 44 publications

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“…As can be seen from the above data, in rabbits with exogenous administration of cholesterol, the development of dyslipoproteinemia is noted. Animals develop type III dyslipoproteinemia -dysbetalipoproteinemia [10]. According to the literature, this type of hyperlipoproteinemia is characterized by the presence of very low-density lipoprotein and lowdensity lipoprotein, which have a high cholesterol content and high electrophoretic mobility, i.e., the presence of pathological lipoproteins of very low density.…”

Section: Resultsmentioning

confidence: 99%

Vascular Endothelial Dysfunctions with Hyperlipoproteinemia

Azim¹

2023

J Biosen and Bioelec Res

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Background: Cardiovascular diseases and, primarily coronary heart disease, remain among the leading causes of disability and mortality worldwide. Аim: To study the relationship between vascular endothelial dysfunction and hyperlipoproteinemia in experimental atherosclerosis. Materials and Methods: The experiments were carried out on 28 Chinchilla rabbits with an average weight of 2.5-3.0 kg. The action of drugs was studied in dynamics: the initial 3-month condition and after one month of drug administration. The results obtained were compared with those of the control and intact groups. Results: Long-term administration of cholesterol is accompanied by the development of hypertriglyceridemia, the severity of which depends on the duration of the experiment. Conclusion: An important role in the development of endothelial dysfunction in hypercholesterolemia is played by a decrease in the synthesis of endothelial nitric oxide and an increase in its active radicals, causing modification of low-density lipoproteins and their deposition in the vascular endothelium.

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Section: Resultsmentioning

confidence: 99%

Vascular Endothelial Dysfunctions with Hyperlipoproteinemia

Azim¹

2023

J Biosen and Bioelec Res

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“…The haplotype composition is determined by the combination of two variants: rs7412 (NP_000032.1:Arg176Cys or Arg158Cys according to the old nomenclature) and rs429358 (NP_000032.1:Cys130Arg or Cys112Arg). Homozygotes for the ε2 allele (T/T genotype), in the absence of changes in rs429358 (T/T genotype), will form the ε2ε2 haplotype [2][3][4][5]. In more than 90% of cases, the ε2ε2 haplotype predisposes to the development of an autosomal recessive form of FD [6].…”

Section: Introductionmentioning

confidence: 99%

Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study

Blokhina,

Ershova,

Kiseleva

et al. 2023

IJMS

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Familial dysbetalipoproteinemia (FD) is a highly atherogenic genetically based lipid disorder with an underestimated actual prevalence. In recent years, several biochemical algorithms have been developed to diagnose FD using available laboratory tests. The practical applicability of FD diagnostic criteria and the prevalence of FD in Russia have not been previously assessed. We demonstrated that the diagnostic algorithms of FD, including the diagnostic apoB levels, require correction, taking into account the distribution of apoB levels in the population. At the same time, a triglycerides cutoff ≥ 1.5 mmol/L may be a useful tool in identifying subjects with FD. In this study, a high prevalence of FD was detected: 0.67% (one in 150) based on the ε2ε2 haplotype and triglycerides levels ≥ 1.5 mmol/L. We also analyzed the presence and pathogenicity of APOE variants associated with autosomal dominant FD in a large research sample.

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Biochemical Investigation of the Association of Apolipoprotein E Gene Allele Variations with Insulin Resistance and Amyloid‐β Aggregation in Cardiovascular Disease

Jabeen,

Rehman,

Akash

et al. 2024

Clin Exp Pharma Physio

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This article investigates the intricate associations between apolipoprotein E (APOE) gene alleles variation, insulin resistance (IR) and amyloid‐β aggregation in cardiovascular disease (CVD) patients. A cohort of 250 patients exhibiting the symptoms of CVD and 50 control subjects participated in this study. After applying the stringent inclusion and exclusion criteria, the diseased group was further stratified into three categories: CVD+ (Alzheimer's disease) AD, CVD + (diabetes mellitus) DM and CVD + DM + AD. Blood samples were collected from all recruited participants for the biochemical analyses of lipid profile, glycaemic status, liver function enzymes, inflammatory and oxidative stress biomarkers. Tetra amplification‐refractory mutation system‐polymerase chain reaction (ARMS‐PCR) was employed for APOE gene analysis. Biochemical evaluations revealed the significant elevations in the serum levels of glucose, liver enzymes, interleukin‐6 (IL‐6), cholesterol, low‐density lipoproteins (LDL), triglycerides (TG) and malondialdehyde (MDA) in CVD + DM + AD group. Conversely, the serum levels of insulin, HDL and hexokinase decreased in CVD + DM + AD group compared to the controls and other CVD groups. Tetra ARMS‐PCR results indicated a higher percentage of the risk allele in CVD + DM + AD group when compared with the other groups. Our study elucidates the multifaceted cardiovascular risk factors contributing to IR and AD in CVD patients. Age‐related risk factors, prevalence of APOE risk alleles and the impact of statin use on AD incidences were identified. These findings underscore the need for tailored preventive measures, particularly in APOEε4 and ε3/ε4 carriers with CVD. Further studies should delve into the knowledge‐based protocols to comprehend the underlying mechanisms. Focusing on the therapeutic targets to prevent or delay DM and AD progression in CVDs, especially in APOEε4 carriers, is essential.

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Familial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorder

Cited by 7 publications

References 44 publications

Vascular Endothelial Dysfunctions with Hyperlipoproteinemia

Vascular Endothelial Dysfunctions with Hyperlipoproteinemia

Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study

Biochemical Investigation of the Association of Apolipoprotein E Gene Allele Variations with Insulin Resistance and Amyloid‐β Aggregation in Cardiovascular Disease

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