A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-I Guastalla )

Pisciotta, Livia; Vitali, Cecilia; Favari, Elda; Fossa, Paola; Adorni, Maria Pia; Leone, Daniela; Artom, Nathan; Fresa, Raffaele; Calabresi, Laura; Calandra, Sebastiano

doi:10.1016/j.jacl.2015.09.001

Cited by 7 publications

(6 citation statements)

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“…Indeed, in sera with cholesterol levels in normal range, which is the case of ours, previous observations indicate that cholesterol efflux from cAMP-treated macrophages to both whole and apoB-depleted serum normally leads to similar results (38,39). In our cohort we did not evidence differences of CEC values in subjects with coronary artery calcium score = 0 or > 0, although a not significant tendency of lower serum CEC in subjects with coronary artery calcium score > 0 was revealed.…”

Section: Discussionsupporting

confidence: 73%

Cholesterol efflux capacity does not associate with coronary calcium, plaque vulnerability, and telomere length in healthy octogenarians

Zimetti

Freitas

Campos

et al. 2018

Journal of Lipid Research

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RUNNING TITLECholesterol efflux capacity and atherosclerosis in elderly. ABBREVIATIONSANCOVA, analysis of covariance; CAC, coronary artery calcium; CEC, cholesterol efflux capacity; CRP, Creactive protein; HDL-C, HDL cholesterol; FMD, flow mediated dilation; IMT, intima-media thickness; LDL-C, LDL cholesterol; TC, total cholesterol; TL, telomere length; WHO, world health organization. AbstractSeveral studies revealed that traditional risk factors are less effective in predicting CVD risk in the elderly, suggesting the need to identify new biomarkers. Here we evaluated the association between serum cholesterol efflux capacity (CEC), an atheroprotective property of HDL recently identified as a novel marker of CVD risk, and atherosclerotic burden in a cohort of very old, healthy individuals. Serum CEC values were not significantly correlated neither with calcium score nor with markers of vulnerable plaque, such as positive remodeling, hypodensity, spotty calcification or napking-ring sign. In addition, no association was detected between CEC and telomere length, a marker of biological aging that has been linked to atherosclerosis extent. Interestingly, elderly subjects presented a remarkably higher CEC (+30.2%; p<0.0001) compared to values obtained from a cohort of sex-matched, free of cardiovascular events, middle-aged individuals. In conclusion, serum CEC is not related to traditional risk factors in very old, free of cardiovascular events subjects, but has significantly higher values compared to a healthy, younger population. Whether this improved HDL functionality may represent a protective factor in CVD onset has to be established in future studies.

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Section: Discussionsupporting

confidence: 73%

Cholesterol efflux capacity does not associate with coronary calcium, plaque vulnerability, and telomere length in healthy octogenarians

Zimetti

Freitas

Campos

et al. 2018

Journal of Lipid Research

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“…Seventy-nine carriers of LCAT gene mutations and 35 non-affected family controls, all belonging to the Italian LCAT deficient families [17][18][19][20], volunteered for the study. The carriers' group was comprised…”

Section: Subjectsmentioning

confidence: 99%

“…heterozygotes. In addition, 2 carriers of two mutations in the ABCA1 gene, 2 carriers of one mutation in the ABCA1 gene, 2 carriers of two mutations in the APOAI gene and 4 carriers of one mutation in the APOAI gene were included in the study [17][18][19][20][21][22][23]. A detailed complete overview of the LCAT, ABCA1, and ApoA-I mutations can be found in the Supplemental Table I.…”

Section: Accepted Manuscriptmentioning

confidence: 99%

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Plasma PCSK9 levels and lipoprotein distribution are preserved in carriers of genetic HDL disorders

Ruscica

Simonelli

Botta

et al. 2018

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biolog

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Proprotein convertase subtilisin/kexin 9 (PCSK9), a protein regulating the number of cell-surface LDL receptors (LDLR), circulates partially associated to plasma lipoproteins. How this interaction alters PCSK9 plasma levels is still unclear. In the present study, we took advantage of the availability of a large cohort of carriers of genetic HDL disorders to evaluate how HDL defects affect plasma PCSK9 levels and its distribution among lipoproteins. Plasma PCSK9 concentrations were determined by ELISA in carriers of mutations in LCAT, ABCA1, or APOAI genes, and lipoprotein distribution was analyzed by FPLC. Carriers of one or two mutations in the LCAT gene show plasma PCSK9 levels comparable to that of unaffected family controls (homozygotes, 159.4 ng/mL (124.9;243.3); heterozygotes, 180.3 ng/mL (127.6;251.5) and controls, 190.4 ng/mL (146.7;264.4); P for trend = 0.33). Measurement of PCSK9 in plasma of subjects carrying mutations in ABCA1 or APOAI genes confirmed normal values. When fractionated by FPLC, PCSK9 peaked in a region between LDL and HDL in control subjects. In carriers of all HDL defects, lipoprotein profile shows a strong reduction of HDL, but the distribution of PCSK9 was superimposable to that of controls. In conclusion, the present study demonstrates that in genetically determined low HDL states plasma PCSK9 concentrations and lipoprotein distribution are preserved, thus suggesting that HDL may not be involved in PCSK9 transport in plasma.

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“…Cholesterol levels are important biomarkers associated with cardiovascular disease. In addition to predicting cardiovascular adverse events in patients with heart conditions, 6 these parameters are cost-effective markers to monitor abnormalities in lipoprotein metabolism and various disorders [27,[30][31][32][33][34][35][36]. In this study, we examined the trends in serum lipoprotein ratio (TC/HDL and LDL/HDL) in more recent years between 2007 and 2018, and presented the trends in levels of lipids across the age span (6 to 80 years old).…”

Section: Discussionmentioning

confidence: 99%

Trends in TC/HDL and LDL/HDL Ratios across the Age Span: Data from the 2007-2018 National Health and Nutrition Examination Survey (NHANES)

Wang¹,

Kapellush²,

Hou³

et al. 2021

Asian J Complement Altern Med

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Background. Cholesterol levels in total cholesterol (TC), low-density lipoprotein (LDL-C), high-density lipoprotein (HDL-C), and triglyceride (TG) contribute to atherosclerosis and its clinical consequences. Objectives. This study aimed to examine the trends in serum TC/HDL and LDL/HDL ratio across the age span. Methods. This is an observational study. Blood lipid measurements, taken from 85,646 noninstitutionalized participants, aged 6 to 80, were obtained from the National Health and Nutrition Examination Survey (NHANES) study. We compared the TC/HDL and LDL/HDL ratio trends in three distinct cross-sectional surveys during 2007-2010, 2011-2014, and 2015- 2018. Results. Cholesterol ratios changed by age and differed by sex. Mean TC/HDL ratios declined from 4.03 (95% CI, 4.01-4.05) in 2007-2010, to 3.84 (95% CI, 3.81-3.87) in 2015-2018 (p<.05 for linear trend) in male; mean TC/HDL ratios declined from 3.69 (95% CI, 3.67-3.70) in 2007- 2010, to 3.45 (95% CI, 3.42-3.47) in 2015-2018 (p<.05 for linear trend) in female. Mean LDL/HDL ratios declined from 2.30 (95% CI, 2.28-2.32) in 2007-2010, to 2.18 (95% CI, 2.15- 2.20) in 2015-2018 (p<.05 for linear trend) in male; mean LDL/HDL ratios declined from 2.04 (95% CI, 2.02-2.06) in 2007-2010, to 1.96 (95% CI, 1.94-1.98) in 2015-2018 (p<.001 for linear trend) in female. Conclusions. Between 2007 and 2018, favorable trends in lipid ratio levels were observed among noninstitutionalized residents in the US.

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A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-I Guastalla )

Abstract: In these heterozygotes for apoA-I truncation, the metabolic syndrome has deleterious effect on HDL system, whereas β-thalassemia trait may delay the onset of cardiovascular disease.

Cited by 7 publications

References 42 publications

Cholesterol efflux capacity does not associate with coronary calcium, plaque vulnerability, and telomere length in healthy octogenarians

Cholesterol efflux capacity does not associate with coronary calcium, plaque vulnerability, and telomere length in healthy octogenarians

Plasma PCSK9 levels and lipoprotein distribution are preserved in carriers of genetic HDL disorders

Trends in TC/HDL and LDL/HDL Ratios across the Age Span: Data from the 2007-2018 National Health and Nutrition Examination Survey (NHANES)

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