Premature and severe cardiovascular disease in a Mexican male with markedly low high-density-lipoprotein-cholesterol levels and a mutation in the lecithin:cholesterol acyltransferase gene: A family study

Posadas-Sánchez, Rosalinda; Posadas‐Romero, Carlos; Ocampo-Arcos, Wendy Angélica; Villarreal-Molina, Teresa; Vargas‐Alarcón, Gilberto; Antúnez-Argüelles, Erika; Mendoza-Pérez, Enrique; Cardoso-Saldaña, Guillermo; Martínez-Alvarado, Rocío; Moeini, Aida; Jorge‐Galarza, Esteban

doi:10.3892/ijmm.2014.1733

Cited by 10 publications

(9 citation statements)

References 40 publications

(51 reference statements)

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“…Cases are more likely in countries hosting research groups with interest and resources to investigate this disease. At present, only six countries have reported probands with LCAT deficiency in Latin America, and genetic evaluation has only been carried out in three [82][83][84][85][86][87][88]. Of these, Brazil reports three mutations causing FLD each associated with a distinct geographical region.…”

Section: Discussionmentioning

confidence: 99%

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred

et al. 2021

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Background LCAT (lecithin-cholesterol acyltransferase) deficiency is characterized by two distinct phenotypes, familial LCAT deficiency (FLD) and Fish Eye disease (FED). This is the first systematic review evaluating the ethnic distribution of LCAT deficiency, with particular emphasis on Latin America and the discussion of three Mexican-Mestizo probands. Methods A systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic review and Meta-Analysis) Statement in Pubmed and SciELO. Articles which described subjects with LCAT deficiency syndromes and an assessment of the ethnic group to which the subject pertained, were included. Results The systematic review revealed 215 cases (154 FLD, 41 FED and 20 unclassified) pertaining to 33 ethnic/racial groups. There was no association between genetic alteration and ethnicity. The mean age of diagnosis was 42 ± 16.5 years, with fish eye disease identified later than familial LCAT deficiency (55 ± 13.8 vs. 41 ± 14.7 years respectively). The prevalence of premature coronary heart disease was significantly greater in FED vs. FLD. In Latin America, 48 cases of LCAT deficiency have been published from six countries (Argentina (1 unclassified), Brazil (38 FLD), Chile (1 FLD), Columbia (1 FLD), Ecuador (1 FLD) and Mexico (4 FLD, 1 FED and 1 unclassified). Of the Mexican probands, one showed a novel LCAT mutation. Conclusions The systematic review shows that LCAT deficiency syndromes are clinically and genetically heterogeneous. No association was confirmed between ethnicity and LCAT mutation. There was a significantly greater risk of premature coronary artery disease in fish eye disease compared to familial LCAT deficiency. In FLD, the emphasis should be in preventing both cardiovascular disease and the progression of renal disease, while in FED, cardiovascular risk management should be the priority. The LCAT mutations discussed in this article are the only ones reported in the Mexican- Amerindian population.

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Section: Discussionmentioning

confidence: 99%

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred

et al. 2021

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“…Lipoproteins were isolated from plasma at a density of 1.21 g/mL for HDL-c and 1.063 g/mL for LDL-c via sequential preparative ultracentrifugation in a Beckman TL-100 ultracentrifuge at 4 °C. HDL-c was dialyzed against phosphate buffer (pH 7.4) [ 14 ].…”

Section: Methodsmentioning

confidence: 99%

Oxidative modifications of foetal LDL-c and HDL-c lipoproteins in preeclampsia

et al. 2018

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BackgroundOxidative modifications have been observed in lipids and proteins in lipoproteins isolated from women with preeclampsia. Thus, newborns could also be susceptible to this damage directly through their mothers. In this study, we evaluated the oxidative profile of LDL-c and HDL-c lipoproteins isolated from the umbilical cord from newborns born to women with preeclampsia.MethodsThirty newborns born to women with preeclampsia and thirty newborns born to women with healthy pregnancies were included. Lipid-damage biomarkers, including conjugated dienes, lipohydroperoxides and malondialdehyde, were measured. The reduction of nitroblue tetrazolium, formation of dityrosines, and carbonylation of proteins were assessed as indicators of protein damage. The protective activity of paraoxonase-I on HDL-c particles was evaluated. The total antioxidant capacity and lipid profiles were quantified in plasma. Data were analysed using Student’s t-tests and Pearson correlation coefficients.ResultsCompared with the control group, the preeclampsia group had an increase in the percentage of lipid damage in both lipoproteins. There was an increase of 23.3 and 19.9% for conjugated dienes, 82.4 and 21.1% for lipohydroperoxides, and 103.8 and 51.5% for malondialdehyde in LDL-c and HDL-c, respectively. However, these infants did not show evident damage in protein oxidation. The activity of the enzyme paraoxonase-I was decreased by 36.2%; by contrast, the total antioxidant capacity was increased by 40% (protein) and 28.8% (non-protein).ConclusionsThe oxidative modifications that occur in HDL-c and LDL-c isolated from newborns from women with preeclampsia are mainly caused by lipoperoxidation processes related to evident paraoxonase-I inactivation. The absence of protein damage is likely linked to an increase in total antioxidant capacity. Therefore, antioxidant support could be helpful in reducing oxidative stress in mother/newborn dyads.

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“…The causes for low cholesterol in HDL of ALL survivors could be multiple. For example, limited LCAT activity 34,46 , poor cholesterol efflux from cells 42,46 and abnormally high CETP activity 47 have already been identified as causes of decreased HDL cholesterol content, which can render HDL inefficient in protecting against atherosclerotic plaque initiation and cardiovascular diseases development.…”

Section: Discussionmentioning

confidence: 99%

Altered proteome of high-density lipoproteins from paediatric acute lymphoblastic leukemia survivors

Fournier

Bonneil

Garofalo

et al. 2019

Sci Rep

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Acute lymphoblastic leukemia (ALL) is the most frequent malignancy in children. With the use of more modern, efficient treatments, 5-year survival has reached more than 90% in this population. However, this achievement comes with many secondary and long-term effects since more than 65% of the survivors experience at least one severe complication, including the metabolic syndrome and cardiovascular diseases. The main objective of the present work was to characterize the composition of HDL particles isolated from pediatric ALL survivors. HDLs from 8 metabolically healthy ALL survivors, 8 metabolically unhealthy ALL survivors and 8 age- and gender-matched controls were analyzed. The HDL fraction from the survivors contained less cholesterol than the controls. In addition, proteomic analyses revealed an enrichment of pro-thrombotic (e.g., fibrinogen) and pro-inflammatory (e.g., amyloid A) proteins in the HDLs deriving from metabolically unhealthy survivors. These results indicate an alteration in the composition of lipid and protein content of HDL from childhood ALL survivors with metabolic disorders. Although more work is needed to validate the functionality of these HDLs, the data seem relevant for survivor health given the detection of potential biomarkers related to HDL metabolism and functionality in cancer.

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Premature and severe cardiovascular disease in a Mexican male with markedly low high-density-lipoprotein-cholesterol levels and a mutation in the lecithin:cholesterol acyltransferase gene: A family study

Cited by 10 publications

References 40 publications

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred

Oxidative modifications of foetal LDL-c and HDL-c lipoproteins in preeclampsia

Altered proteome of high-density lipoproteins from paediatric acute lymphoblastic leukemia survivors

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