Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency

Lamíquiz-Moneo, Itziar; Civeira, Fernando; Gómez-Coronado, Diego; Blanco‐Vaca, Francisco; Ledesma, Hilda Mercedes Villafuerte; Gil, María José; Amigó, Núria; Mateo-Gállego, Rocío; Cenarro, Ana

doi:10.3390/jcm8111860

Cited by 12 publications

(14 citation statements)

References 29 publications

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“…Furthermore, chronic inflammation induces a variety of alterations in lipid metabolism, which are accompanied by an altered ratio of free cholesterol to cholesterol ester and associated with an abnormal lipoprotein profile [29]. This study confirms the previously reported association between an atypical lipoprotein profile with cholestatic jaundice [34], suggesting that the detection of abnormal lipoprotein profile might be used to identify cholestatic jaundice in PDAC patients. We hypothesize that altered lipid metabolism observed in PDAC patients [56] could be due to the effects of cholestatic jaundice in these patients.…”

Section: Discussionsupporting

confidence: 88%

“…The patients classified in one of the other two clusters (A and B) showed an atypical lipoprotein profile. To verify if patients belonging to clusters A or B showed signs of cholestatic jaundice, as suggested by Lamiquiz-Moneo et al [34], the concentration of cholesterol ester and free cholesterol was evaluated in the lipid extracts (Figure 4B). The ratio between free cholesterol and cholesterol ester was used as a marker to identify the presence of an abnormal lipoprotein produced in patients with cholestatic jaundice [29].…”

Section: Impact Of Raised Bilirubin Levels On Metabolites and Lipoproteins In Pdacmentioning

confidence: 99%

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Serum Metabolomic and Lipoprotein Profiling of Pancreatic Ductal Adenocarcinoma Patients of African Ancestry

et al. 2021

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Pancreatic ductal adenocarcinoma (PDAC) is a lethal cancer with a characteristic dysregulated metabolism. Abnormal clinicopathological features linked to defective metabolic and inflammatory response pathways can induce PDAC development and progression. In this study, we investigated the metabolites and lipoproteins profiles of PDAC patients of African ancestry. Nuclear Magnetic Resonance (NMR) spectroscopy was conducted on serum obtained from consenting individuals (34 PDAC, 6 Chronic Pancreatitis, and 6 healthy participants). Seventy-five signals were quantified from each NMR spectrum. The Liposcale test was used for lipoprotein characterization. Spearman’s correlation and Kapan Meier tests were conducted for correlation and survival analyses, respectively. In our patient cohort, the results demonstrated that levels of metabolites involved in the glycolytic pathway increased with the tumour stage. Raised ethanol and 3-hydroxybutyrate were independently correlated with a shorter patient survival time, irrespective of tumour stage. Furthermore, increased levels of bilirubin resulted in an abnormal lipoprotein profile in PDAC patients. Additionally, we observed that the levels of a panel of metabolites (such as glucose and lactate) and lipoproteins correlated with those of inflammatory markers. Taken together, the metabolic phenotype can help distinguish PDAC severity and be used to predict patient survival and inform treatment intervention.

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Section: Discussionsupporting

confidence: 88%

Section: Impact Of Raised Bilirubin Levels On Metabolites and Lipoproteins In Pdacmentioning

confidence: 99%

Serum Metabolomic and Lipoprotein Profiling of Pancreatic Ductal Adenocarcinoma Patients of African Ancestry

et al. 2021

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“…However, not all cases of FLD showed significant proteinuria or reduced eGFR; this suggests that the rate of progression to renal failure may be highly variable. Lamiquiz-Moneo et al state that this clinical variability is likely to be related to the biochemical /lipid phenotype rather than to the inherited mutation [ 80 ]. In addition, an unclassified clinical phenotype was present in 9.3 % of our cases; the authors could not confirm either FLD or FED (supplementary Tables 4 and 5 ).…”

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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“…ey are also involved in many cellular processes in health and disease. Various diseases have been reported to correlate with lipid metabolism [1][2][3][4][5] and several studies revealed changes in lipid regulation in animal and human tissues for different diseases [6][7][8][9][10]. e primary function of the highly abundant phospholipids and glycerolipids though is to support the structure of the cellular membrane.…”

Section: Introductionmentioning

confidence: 99%

Systematic Analysis of the Whole-Body Tissue Distribution and Fatty Acid Compositions of Membrane Lipids in CD1 and NMRI Mice and Wistar Rats

Schmitt

Ruan

et al. 2020

International Journal of Analytical Chemistry

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Understanding the tissue distribution of phospholipids and glycerolipids in animal models enables promoting the pharmacokinetic study of drugs and related PK predictions. The measurement of lipid compositions in animal models, usually mice and rats, without a standardized approach hindered the accuracy of PBPK investigation. In this work, high resolution mass spectrometry was applied to profile the tissue distribution of phospholipids and glycerolipids in 12 organs/tissues of mice and rats. Using this method, not only the amounts of phospholipids and glycerolipids in each organ/tissue but also the fatty acid compositions were acquired. In order to explore the interspecies specificity of lipid distribution in different organs/tissues, three animal species including CD1 mice, NMRI mice, and Wister rats were used in this systematic study. Globally, more organ specificity was observed. It was found that the brain is the organ containing the most abundant phosphatidylserine lipids (PSs) in all three animal models, leading to brain tissues having the most concentrated acidic phospholipids. Diverse fatty acid compositions in each lipid class were clearly revealed. Certain tissues/organs also had a specific selection of unique fatty acid compositions, for example, unreferenced FA(18 : 2) in the brain. It turned out that the access of free fatty acids affects the incorporation of acyl chain in phospholipids and glycerolipids. In the analysis, ether lipids were also profiled with the observation of dominant ePEs in brain tissues. However, little interspecies difference was found for fatty acid constituents and tissues distribution of phospholipids and glycerolipids.

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Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency

Cited by 12 publications

References 29 publications

Serum Metabolomic and Lipoprotein Profiling of Pancreatic Ductal Adenocarcinoma Patients of African Ancestry

Serum Metabolomic and Lipoprotein Profiling of Pancreatic Ductal Adenocarcinoma Patients of African Ancestry

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

Systematic Analysis of the Whole-Body Tissue Distribution and Fatty Acid Compositions of Membrane Lipids in CD1 and NMRI Mice and Wistar Rats

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