Distribution of apolipoprotein E phenotypes in Friedreich's ataxia

AbstractAllelic polymorphism at the apolipoprotein E (apo E) gene locus (alleles ɛ2, ɛ3 and ɛ4) is responsible for the existence of 6 discrete electrophoretic phenotypes of plasma apo E. Since the presence of the ɛ2 allele in the genotype tends to be associated with higher triglyceride levels, a study was undertaken to determine if a higher frequency of this allele could account for the presence of higher plasma triglycerides in subsets of patients with Friedreich's Ataxia. The frequency of the apo E phenotypes was determined in 37 subjects with Friedreich's Ataxia and compared with that of 102 normolipidemic and 102 hyperlipidemic individuals. There was no increased prevalence of the E3/2 phenotype and the ɛ2 allele in the Friedreich's sample as is found in a hyperlipidemic sample. Furthermore, the ɛ2 subset did not have significantly higher plasma triglycerides than the non-ɛ2 subset and the hypothesis was rejected. On the other hand, there was a trend for a decreased frequency of the E4/3 phenotype in the Friedreich's sample relative to the hyperlipidemic group but the difference did not reach statistical significance. The apo E phenotype distribution was also measured in a smaller sample of Charlevoix-Saguenay disease; this led to the discovery of two siblings with the relatively rare E2/2 phenotype and unexpectedly low levels of plasma lipid and lipoprotein concentrations. Plasma apolipoprotein E concentrations in both diseases were within the normal range except for subjects bearing the E2/2 phenotype.

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Plasma Lipoprotein Lipase and Hepatic Lipase Activities in Friedreich’s Ataxia

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s031716710004395x ◽

1982 ◽

Vol 9 (2) ◽

pp. 191-194 ◽

Cited By ~ 5

Author(s):

D. Blache ◽

D. Bouthillier ◽

A. Barbeau ◽

J. Davignon

Keyword(s):

Lipoprotein Lipase ◽

Hepatic Lipase ◽

Friedreich’S Ataxia ◽

Friedreich's Ataxia ◽

Hepatic Triglyceride ◽

Normal Range ◽

Triglyceride Lipase ◽

Plasma Triglycerides ◽

Control Subjects ◽

Hepatic Triglyceride Lipase

SUMMARY:Plasma triglycerides although within the normal range have been shown to be higher in Friedreich’s ataxia than in control subjects. To determine whether this difference could be ascribed to a reduced catabolism of triglyceride-rich lipoproteins, the activities of lipoprotein lipase (LPL) and hepatic triglyceride lipase (HL), released into plasma after an heparin injection, were measured in 13 cases of Friedreich’s ataxia and 14 control subjects of comparable signs. LPL was found to be significantly lower in the ataxic patients. Moreover about half of the cases clustered below the normal range for both lipase activities. This subgroup of Friedreich’s patients had significantly higher plasma triglycerides than those with normal lipase activities. Further studies are needed to relate these findings to other characteristics of the disease.

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Hypertriglyceridemia and Lower LDL Cholesterol Concentration in Relation to Apolipoprotein E Phenotypes in Myotonic Dystrophy

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100028675 ◽

1989 ◽

Vol 16 (1) ◽

pp. 129-133 ◽

Cited By ~ 8

Author(s):

Sital Moorjani ◽

Daniel Gaudet ◽

Claude Laberge ◽

Marie Christine Thibault ◽

Jean Mathieu ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Ldl Cholesterol ◽

Plasma Cholesterol ◽

Plasma Lipid ◽

Cholesterol Concentration ◽

Plasma Triglycerides ◽

Ldl Particles ◽

Vldl Cholesterol ◽

Apo E

ABSTRACT:Plasma lipid, lipoprotein levels and apolipoprotein apo E phenotypes were determined in 70 patients with myotonic dystrophy (MyD) and 81 controls. Marked differences were noticed in the apo E phenotype frequencies between the two groups. Plasma triglycerides and VLDL cholesterol were higher in MyD than controls, but only the latter was related to differences in the apo E phenotypes between two groups. Accordingly, the ratio of VLDL cholesterol/plasma triglycerides was increased significantly in MyD, suggesting accumulation of intermediary density particles due to lower affinity of E2 containing lipoproteins for lipoprotein cell receptors. The LDL cholesterol concentration was lower in MyD than controls and was related to differences in the apo E phenotype frequencies between the two groups. These results indicate increased removal of LDL particles in the apo E2 phenotypes, perhaps due to upregulation of LDL (B, E) receptor activity. Plasma cholesterol and HDL cholesterol concentrations were similar in both groups. Another feature of the study was lower levels of plasma cholesterol, triglycerides, VLDL and LDL cholesterol in the homozygous E4:E4 phenotype. These results suggest increased clearance rate of both VLDL and LDL particles and support the concept that apo E4-containing lipoproteins have higher in vivo affinity for ape E and/or B, E receptors.

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The Syrian Golden Hamster: A Model for the Cardiomyopathy of Friedreich's Ataxia

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100119687 ◽

1979 ◽

Vol 6 (2) ◽

pp. 223-226 ◽

Cited By ~ 6

Author(s):

J. Azari ◽

T. Reisine ◽

A. Barbeau ◽

H.I. Yamamura ◽

R. Huxtable

Keyword(s):

Adrenergic Receptor ◽

Friedreich’S Ataxia ◽

Friedreich's Ataxia ◽

Laboratory Model ◽

Receptor Density ◽

Significant Difference ◽

Calcium Magnesium ◽

The Difference ◽

Whole Heart ◽

Available Information

SummaryIn light of the available information on the cardiomyopathy of Friedreich's ataxia, the cardiomyopathic Syrian hamster may be an appropriate laboratory model. Cardiomyopathy in these animals is a result of calcium accumulation. We analyzed the atria and right and left ventricles from cardiomyopathic (CM) and random bred (RB) animals for calcium, magnesium, and iron concentrations at 30-40 and 60-70 days of age (age of maximum lesioning). There are no significant differences in the concentration of iron or magnesium among age-matched groups. The concentration of calcium in the left ventricles of the CM animals at 60 days old is 14 fold higher than that of R B animals. Although there is a significant difference in the concentration of calcium in the left ventricles of younger animals, it is not as pronounced as the difference in older animals. Analysis of the taurine concentration in 30-40 day old animals revealed that the CM animals show slightly higher taurine concentrations than RB in the whole heart. In 60 day old CM hamsters the ß-adrenergic receptor density of the ventricles is unchanged. This indicates that calcium overload is not due to a drene rg i c super sensitivity.

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Influence of the polymorphism of apolipoprotein E in cerebral vascular disease

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2003000100002 ◽

2003 ◽

Vol 61 (1) ◽

pp. 7-13 ◽

Cited By ~ 12

Author(s):

Dorotéia R.S. Souza ◽

Bernadete F. Campos ◽

Érika F. de Arruda ◽

Lucy J. Yamamoto ◽

Daniel M. Trindade ◽

...

Keyword(s):

Apolipoprotein E ◽

Lipid Profile ◽

Clinical Symptoms ◽

Statistical Significance ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Control Group ◽

Reduced Frequency ◽

Apo E ◽

The Relationship

The genetic heterogeneity of apolipoprotein E (apo E) has been associated with lipid profile and atherothrombotic stroke, however this association remains inconclusive. OBJECTIVE: To evaluate the relationship between the isoforms of apo E and atherothrombotic stroke, by ascertaining the frequency of its alleles and genotypes associated with the lipid profile in patients with stroke. METHOD: A total of 207 individuals were divided into two groups, consisting of 107 patients with stroke and 100 individuals without clinical symptoms of the disease. Blood samples were taken from patients and controls for molecular investigation of the apo E (epsilon2, epsilon3 and epsilon4 alleles) for the analysis of the lipid profile. RESULTS: The epsilon3 allele was the most common and its prevalence was significantly higher in patients (0.93) compared to the controls (0.86; p=0.024). The epsilon2 allele was rarely seen specifically in patients (0.02 versus 0.05 in controls, p=0.191). The epsilon4 allele was not associated with stroke showing a reduced frequency in patients (0.05) when compared to controls (0.09; p=0.011). Although higher average levels of lipid profile were found in patients when compared to controls, with statistical significance for the values of total cholesterol (TC) (203.6mg/dL±57.98 and 181.9mg/dL±68.47 respectively; p=0.003) and low-density lipoprotein cholesterol (LDLc) (131.4mg/dL±52.60 and 116mg/dL±56.38, respectively; p=0.014), these were independent of the presence of the epsilon4 allele. In control group the higher TC and LDLc values occurred in the absence of the epsilon4 allele, confirming the conflicting effect of the alleles of apo E on the plasmatic lipids and atherothrombotic stroke. CONCLUSION: The isoforms of apo E cannot be regarded as an isolated risk factor for stroke and do not show association with lipid profile in this study.

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Cardiomyopathy in Friedreich's ataxia: assessment by echocardiography and cardiac magnetic resonance imaging

Aktuelle Neurologie ◽

10.1055/s-2005-919549 ◽

2005 ◽

Vol 32 (S 4) ◽

Author(s):

C Meyer ◽

G Schmid ◽

S Görlitz ◽

M Schillings ◽

I Wilhelm ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Cardiac Magnetic Resonance ◽

Magnetic Resonance ◽

Cardiac Magnetic Resonance Imaging ◽

Friedreich’S Ataxia ◽

Friedreich's Ataxia ◽

Resonance Imaging

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COMPARATIVE EVALUATION OF MULTIPARAMETRIC ENDORECTAL ULTRASOUND AND ENHANCED IMAGING COLONOSCOPY IN THE DIAGNOSIS OF EARLY COLORECTAL CANCER

Koloproktologia ◽

10.33878/2073-7556-2020-19-3-49-64 ◽

2020 ◽

Vol 19 (3) ◽

pp. 49-64

Author(s):

E. M. Bogdanova ◽

Yu. L. Trubacheva ◽

O. M. Yugai ◽

S. V. Chernyshov ◽

E. G. Rybakov ◽

...

Keyword(s):

Colorectal Cancer ◽

Statistical Significance ◽

Muscle Layer ◽

Endorectal Ultrasound ◽

Diagnostic Methods ◽

Early Colorectal Cancer ◽

Morphological Examination ◽

Optical Magnification ◽

The Difference ◽

Enhanced Imaging

AIM: to compare multiparametric endorectal ultrasound (ERUS) and enhanced imaging colonoscopy in the diagnosis of early colorectal cancer.PATIENTS AND METHODS: the study included 78 patients with epithelial rectal tumor. All the patients underwent multiparametric ERUS and colonoscopy with examination by narrow beam imaging (NBI) at optical magnification. All the patients were operated.RESULTS: a morphological examination removed specimens revealed adenomas in 48 cases, in 19 specimens – adenocarcinomas in situ and T1, and in 11 specimens – adenocarcinomas with invasion of the muscle layer or deeper. When calculating the accuracy indicators of diagnostic methods for groups of patients with adenoma, Tis-T1 adenocarcinoma, and T2-T3 adenocarcinoma, the difference in the sensitivity and specificity of the methods in none of the presented groups did not reach the level of statistical significance (p>0.05).ROC analysis showed that ultrasound has a prognostic value comparable to colonoscopy. The area difference was 0.013 (p=0.85).CONCLUSION: endoscopy and ultrasound have similar value in the diagnosis of malignant transformation of rectal adenomas.

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