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[PMID]: 29459468
[Au] Autor:Balder JW; Rimbert A; Zhang X; Viel M; Kanninga R; van Dijk F; Lansberg P; Sinke R; Kuivenhoven JA
[Ad] Address:Department of Pediatrics, Section Molecular Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (J.-W.B., A.R., P.L., J.A.K.).
[Ti] Title:Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women.
[So] Source:Circulation;137(8):820-831, 2018 Feb 20.
[Is] ISSN:1524-4539
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Atherosclerosis starts in childhood but low-density lipoprotein cholesterol (LDL-C), a causal risk factor, is mostly studied and dealt with when clinical events have occurred. Women are usually affected later in life than men and are underdiagnosed, undertreated, and understudied in cardiovascular trials and research. This study aims at a better understanding of lifestyle and genetic factors that affect LDL-C in young women. METHODS: We randomly selected for every year of age 8 women with LDL-C ≤1st percentile (≤50 mg/dL) and 8 women with LDL-C ≥99th percentile (≥186 mg/dL) from 28 000 female participants aged between 25 to 40 years of a population-based cohort study. The resulting groups include 119 and 121 women, respectively, of an average 33 years of age. A gene-sequencing panel was used to assess established monogenic and polygenic origins of these phenotypes. Information on lifestyle was extracted from questionnaires. A healthy lifestyle score was allocated based on a recently developed algorithm. RESULTS: Of the women with LDL-C ≤1st percentile, 19 (15.7%) carried mutations that are causing monogenic hypocholesterolemia and 60 (49.6%) were genetically predisposed to low LDL-C on the basis of an extremely low weighted genetic risk score. In comparison with control groups, a healthier lifestyle was not associated with low LDL-C in women without genetic predispositions. Among women with LDL-C ≥99th percentile, 20 women (16.8%) carried mutations that cause familial hypercholesterolemia, whereas 25 (21%) were predisposed to high LDL-C on the basis of a high-weighted genetic risk score. The women in whom no genetic origin for hypercholesterolemia could be identified were found to exhibit a significantly unfavorable lifestyle in comparison with controls. CONCLUSIONS: This study highlights the need for early assessment of the cardiovascular risk profile in apparently healthy young women to identify those with LDL-C ≥99th percentile for their age: first, because, in this study, 17% of the cases were molecularly diagnosed with familial hypercholesterolemia, which needs further attention; second, because our data indicate that an unfavorable lifestyle is significantly associated with severe hypercholesterolemia in genetically unaffected women, which may also need further attention.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:In-Data-Review
[do] DOI:10.1161/CIRCULATIONAHA.117.032479

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[PMID]: 29036232
[Au] Autor:Lee CJ; Lee Y; Park S; Kang SM; Jang Y; Lee JH; Lee SH
[Ad] Address:Division of Cardiology, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
[Ti] Title:Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.
[So] Source:PLoS One;12(10):e0186446, 2017.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Screening of variants, related to lipid metabolism in patients with extreme cholesterol levels, is a tool used to identify targets affecting cardiovascular outcomes. The aim of this study was to examine the prevalence and characteristics of rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol (LDL-C) levels. METHODS: Among 13,545 participants enrolled in a cardiovascular genome cohort, 22 subjects, whose LDL-C levels without lipid-lowering agents were ≤1 percentile (48 mg/dL) of Korean population, were analyzed. Two target genes, APOB and PCSK9, were sequenced by targeted next-generation sequencing. Prediction of functional effects was conducted using SIFT, PolyPhen-2, and Mutation Taster, and matched against a public database of variants. RESULTS: Eight rare variants of the two candidate genes (five in APOB and three in PCSK9) were found in nine subjects. Two subjects had more than two different rare variants of either gene (one subject in APOB and another subject in APOB/PCSK9). Conversely, 12 common variants (nine in APOB and three in PCSK9) were discovered in 21 subjects. Among all variants, six in APOB and three in PCSK9 were novel. Several variants previously reported functional, including c.C277T (p.R93C) and c.G2009A (p.G670E) of PCSK9, were found in our population. CONCLUSIONS: Rare variants of APOB or PCSK9 were identified in nine of the 22 study patients with extremely low LDL-C levels, whereas most of them had common variants of the two genes. The common novelty of variants suggested polymorphism of the two genes among them. Our results provide rare genetic information associated with this lipid phenotype in East Asian people.
[Mh] MeSH terms primary: Apolipoprotein B-100/genetics
Cholesterol, LDL/blood
Genetic Variation
Polymorphism, Single Nucleotide
Proprotein Convertase 9/genetics
[Mh] MeSH terms secundary: Cohort Studies
Female
Genotype
Humans
Hypobetalipoproteinemias/blood
Hypobetalipoproteinemias/genetics
Male
Middle Aged
Phenotype
Republic of Korea
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (APOB protein, human); 0 (Apolipoprotein B-100); 0 (Cholesterol, LDL); EC 3.4.21.- (PCSK9 protein, human); EC 3.4.21.- (Proprotein Convertase 9)
[Em] Entry month:1711
[Cu] Class update date: 171106
[Lr] Last revision date:171106
[Js] Journal subset:IM
[Da] Date of entry for processing:171017
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0186446

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[PMID]: 28633452
[Au] Autor:Fazio S; Minnier J; Shapiro MD; Tsimikas S; Tarugi P; Averna MR; Arca M; Tavori H
[Ad] Address:Center for Preventive Cardiology, Knight Cardiovascular Institute, Oregon Health & Science University, Portland, Oregon 97239.
[Ti] Title:Threshold Effects of Circulating Angiopoietin-Like 3 Levels on Plasma Lipoproteins.
[So] Source:J Clin Endocrinol Metab;102(9):3340-3348, 2017 Sep 01.
[Is] ISSN:1945-7197
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Context: Angiopoietin-like 3 (ANGPTL3) deficiency in plasma due to loss-of-function gene mutations results in familial combined hypobetalipoproteinemia type 2 (FHBL2) in homozygotes. However, the lipid phenotype in heterozygotes is much milder and does not appear to relate directly to ANGPTL3 levels. Furthermore, the low-density lipoprotein (LDL) phenotype in carriers of ANGPTL3 mutations is unexplained. Objective: To determine whether reduction below a critical threshold in plasma ANGPTL3 levels is a determinant of lipoprotein metabolism in FHBL2, and to determine whether proprotein convertase subtilisin kexin type 9 (PCSK9) is involved in determining low LDL levels in this condition. Design: We studied subjects from 19 families with ANGPTL3 mutations and subjects with familial combined hypobetalipoproteinemia type 1 (FHBL1) due to truncated apolipoprotein B (apoB) species. Results: First, total cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides, and HDL and LDL particle concentration correlated with plasma ANGPTL3 levels but only when the latter was <25% of normal (<60 ng/dL). Second, the very low-density lipoprotein particle concentration correlated strongly with plasma ANGPTL3 when the latter was <58% of normal. Third, both FHBL1 and FHBL2 subjects showed low levels of mature and LDL-bound PCSK9 and higher levels of its furin-cleaved form. Finally, LDL-bound PCSK9 is protected from cleavage by furin and binds to the LDL receptor more strongly than apoB-free PCSK9. Conclusions: Our results suggest that the hypolipidemic effects of ANGPTL3 mutations in FHBL2 are dependent on a threshold of plasma ANGPTL3 levels, with differential effects on various lipoprotein particles. The increased inactivation of PCSK9 by furin in FHBL1 and FHBL2 is likely to cause increased LDL clearance and suggests novel therapeutic avenues.
[Mh] MeSH terms primary: Angiopoietins/genetics
Apolipoproteins B/blood
Genetic Predisposition to Disease
Hypobetalipoproteinemias/genetics
[Mh] MeSH terms secundary: Adult
Aged
Angiopoietin-like Proteins
Blotting, Western
Cohort Studies
Female
Heterozygote
Humans
Hypobetalipoproteinemias/blood
Hypobetalipoproteinemias/physiopathology
Linear Models
Lipoproteins, HDL/blood
Lipoproteins, LDL/blood
Male
Middle Aged
Multivariate Analysis
Mutation
Pedigree
Phenotype
[Pt] Publication type:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Name of substance:0 (ANGPTL3 protein, human); 0 (Angiopoietin-like Proteins); 0 (Angiopoietins); 0 (Apolipoproteins B); 0 (Lipoproteins, HDL); 0 (Lipoproteins, LDL)
[Em] Entry month:1710
[Cu] Class update date: 171116
[Lr] Last revision date:171116
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:170622
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2016-4043

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[PMID]: 27804036
[Au] Autor:Noto D; Arca M; Tarugi P; Cefalù AB; Barbagallo CM; Averna MR
[Ad] Address:Department of Biomedicine, Internal Medicine and Medical Specialties (DIBIMIS), University of Palermo, Palermo, Italy. DN40611@policlinico.pa.it.
[Ti] Title:Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature.
[So] Source:Acta Diabetol;54(2):111-122, 2017 Feb.
[Is] ISSN:1432-5233
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Statin therapy is beneficial in reducing LDL cholesterol (LDL-C) levels and cardiovascular events, but it is associated with the risk of incident diabetes mellitus (DM). Familial hypercholesterolemia (FH) is characterized by genetically determined high levels of plasma LDL-C and a low prevalence of DM. LDL-C levels seem then inversely correlated with prevalence of DM. Familial hypobetalipoproteinemia (FHBL) represents the genetic mirror of FH in terms of LDL-C levels, very low in subjects carrying mutations of APOB, PCSK9 (FHBL1) or ANGPTL3 (FHBL2). This review explores the hypothesis that FHBL might represent also the genetic mirror of FH in terms of prevalence of DM and that it is expected to be increased in FHBL in comparison with the general population. A systematic review of published literature on FHBL was made by searching PubMed (1980-2016) for articles presenting clinical data on FHBL probands and relatives. The standardized prevalence rates of DM in FHBL1 were similar to those of the reference population, with a prevalence rate of 8.2 and 9.2%, respectively, while FHBL2 showed a 4.9% prevalence of DM. In conclusion, low LDL-C levels of FHBL do not seem connected to DM as it happens in subjects undergoing statin therapy and the diabetogenic effect of statins has to be explained by mechanisms that do not rely exclusively on the reduced levels of LDL-C. The review also summarizes the published data on the effects of FHBL on insulin sensitivity and the relationships between FH, statin therapy, FHBL1 and intracellular cholesterol metabolism, evaluating possible diabetogenic pathways.
[Mh] MeSH terms primary: Cholesterol, LDL/blood
Diabetes Mellitus/epidemiology
Hypobetalipoproteinemias/epidemiology
[Mh] MeSH terms secundary: Diabetes Mellitus/blood
Diabetes Mellitus/genetics
Female
Humans
Hypobetalipoproteinemias/blood
Hypobetalipoproteinemias/genetics
Male
Prevalence
[Pt] Publication type:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Nm] Name of substance:0 (Cholesterol, LDL)
[Em] Entry month:1702
[Cu] Class update date: 170817
[Lr] Last revision date:170817
[Js] Journal subset:IM
[Da] Date of entry for processing:161103
[St] Status:MEDLINE
[do] DOI:10.1007/s00592-016-0931-4

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[PMID]: 27599970
[Au] Autor:Khan NZ; Lindquist E; Alezzawi M; Aronsson H
[Ad] Address:Department of Biotechnology, University of Malakand, Malakand, Pakistan.
[Ti] Title:Understanding Plastid Vesicle Transport - Could it Provide Benefit for Human Medicine?
[So] Source:Mini Rev Med Chem;17(13):1128-1139, 2017.
[Is] ISSN:1875-5607
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: In plants, vesicle transport occurs in the secretory pathway in the cytosol, between the membranes of different compartments. Several protein components have been identified to be involved in the process and their functions were characterized. Both cargos and other molecules (such as hormones) have been shown to use vesicle transport, although the major constituents of vesicles are lipids which are transferred from donor to acceptor membranes. In humans, malfunction of the cytosolic vesicle transport system leads to different diseases. METHOD: To better understand and ultimately cure these human diseases, studying other model systems such as yeast can be beneficial. Plants with their cytosolic vesicle transport system could serve as another model system. However, this review focuses on plant vesicles not present in the cytosol but in the chloroplasts, where lipids produced in the surrounding envelope are transported through the aqueous stroma to the thylakoid membranes. Although chloroplast vesicles have found both biochemical and ultrastructural support, only two proteins have been characterized as components of the pathway. However, using bioinformatics a number of other proteins have been suggested as homologs to the cytosolic system. RESULTS & CONCLUSION: Based on these findings vesicles of chloroplasts are likely most similar to the vesicles trafficking from ER to Golgi, or may even be unique, but important experimental support is yet lacking. In this review, proposed vesicle transport components in chloroplasts are presented, and their possible future implementation for human medicine is discussed.
[Mh] MeSH terms primary: COP-Coated Vesicles/metabolism
Plastids/metabolism
[Mh] MeSH terms secundary: Biological Transport
COP-Coated Vesicles/chemistry
Chloroplasts/metabolism
Choroideremia/drug therapy
Humans
Huntington Disease/drug therapy
Hypobetalipoproteinemias/drug therapy
Malabsorption Syndromes/drug therapy
Monomeric GTP-Binding Proteins/chemistry
Monomeric GTP-Binding Proteins/metabolism
Monomeric GTP-Binding Proteins/therapeutic use
Plants/metabolism
SNARE Proteins/chemistry
SNARE Proteins/metabolism
SNARE Proteins/therapeutic use
rab GTP-Binding Proteins/chemistry
rab GTP-Binding Proteins/metabolism
rab GTP-Binding Proteins/therapeutic use
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (SNARE Proteins); EC 3.6.1.- (SAR1B protein, human); EC 3.6.5.2 (Monomeric GTP-Binding Proteins); EC 3.6.5.2 (rab GTP-Binding Proteins)
[Em] Entry month:1709
[Cu] Class update date: 170912
[Lr] Last revision date:170912
[Js] Journal subset:IM
[Da] Date of entry for processing:160908
[St] Status:MEDLINE
[do] DOI:10.2174/1389557516666160906102221

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[PMID]: 27520363
[Au] Autor:Cuerq C; Restier L; Drai J; Blond E; Roux A; Charriere S; Michalski MC; Di Filippo M; Levy E; Lachaux A; Peretti N
[Ad] Address:Biochemistry Department, Lyon Sud Hospital, Hospices Civils de Lyon, Lyon, France.
[Ti] Title:Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia.
[So] Source:Orphanet J Rare Dis;11(1):114, 2016 08 12.
[Is] ISSN:1750-1172
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Chylomicron retention disease (CMRD), a rare genetic hypocholesterolemia, results in neuro-ophtalmologic damages, which can be prevented by high doses of vitamin E during infancy. In these patients, plasma vitamin E concentration is significantly reduced due to defects of chylomicron secretion. Vitamin E in adipose tissue (AT) and red blood cells (RBC) have been proposed as potential relevant biomarkers of vitamin E status but no reference values in children are available. The objectives were (i) to establish age-reference intervals in healthy children for α-tocopherol in plasma, red blood cells (RBC) and adipose tissue (AT) and (ii) to determine the variations of α-tocopherol in patients with CMRD after oral treatment with vitamin E. METHODS: This prospective study included 166 healthy children (1 month - 18 years) and 4 patients with CMRD. Blood and AT were collected in healthy children during a scheduled surgery and in patients before and after a 4-month treatment with α-tocopherol acetate. RESULTS: The reference ranges for α-tocopherol were 11.9 - 30 µmol/L in plasma, 2.0 - 7.8 µmol/L packed cells in RBC and 60 - 573 nmol/g in AT. α-tocopherol levels in plasma correlated with those of RBC (r = 0.31; p < 0.01). In patients with CMRD after 4 months treatment, α-tocopherol concentrations remained less than 70 % of the control values in plasma, increased by 180 % to reach normal values in RBC, and remained stable in the normal range in AT. CONCLUSION: This study establishes pediatric reference intervals for α-tocopherol in plasma, RBC and AT. These values will be beneficial in assessing accurate α-tocopherol status in children and to optimize the monitoring of rare diseases such as CMRD. Our data suggest that RBC α-tocopherol, appears as a relevant biomarker to appreciate the effectiveness of treatment with α-tocopherol in patients with a rare primary hypocholesterolemia. The biopsy of AT could be used at diagnosis to assess the severity of the vitamin E deficiency and periodically after a long duration of vitamin E therapy to assess whether the treatment is effective, based on reference intervals defined in this study.
[Mh] MeSH terms primary: Adipose Tissue/metabolism
Erythrocytes/metabolism
Hypobetalipoproteinemias/blood
Hypobetalipoproteinemias/metabolism
Malabsorption Syndromes/blood
Malabsorption Syndromes/metabolism
alpha-Tocopherol/blood
alpha-Tocopherol/metabolism
[Mh] MeSH terms secundary: Adolescent
Child
Child, Preschool
Female
Humans
Infant
Infant, Newborn
Male
Metabolism, Inborn Errors/blood
Metabolism, Inborn Errors/metabolism
Prospective Studies
Reference Values
Vitamin E/blood
Vitamin E/metabolism
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:1406-18-4 (Vitamin E); H4N855PNZ1 (alpha-Tocopherol)
[Em] Entry month:1711
[Cu] Class update date: 171107
[Lr] Last revision date:171107
[Js] Journal subset:IM
[Da] Date of entry for processing:160814
[St] Status:MEDLINE
[do] DOI:10.1186/s13023-016-0498-8

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[PMID]: 27487388
[Au] Autor:Walsh MT; Di Leo E; Okur I; Tarugi P; Hussain MM
[Ad] Address:School of Graduate Studies, Molecular and Cell Biology Program, State University of New York Downstate Medical Center, Brooklyn, NY 11203, United States; Department of Cell Biology, State University of New York Downstate Medical Center, Brooklyn, NY 11203, United States.
[Ti] Title:Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.
[So] Source:Biochim Biophys Acta;1861(11):1623-1633, 2016 Nov.
[Is] ISSN:0006-3002
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:We describe two new hypolipidemic patients with very low plasma triglyceride and apolipoprotein B (apoB) levels with plasma lipid profiles similar to abetalipoproteinemia (ABL) patients. In these patients, we identified two previously uncharacterized missense mutations in the microsomal triglyceride transfer protein (MTP) gene, R46G and D361Y, and studied their functional effects. We also characterized three missense mutations (H297Q, D384A, and G661A) reported earlier in a familial hypobetalipoproteinemia patient. R46G had no effect on MTP expression or function and supported apoB secretion. H297Q, D384A, and G661A mutants also supported apoB secretion similarly to WT MTP. Contrary to these four missense mutations, D361Y was unable to support apoB secretion. Functional analysis revealed that this mutant was unable to bind protein disulfide isomerase (PDI) or transfer lipids. The negative charge at residue 361 was critical for MTP function as D361E was able to support apoB secretion and transfer lipids. D361Y most likely disrupts the tightly packed middle α-helical region of MTP, mitigates PDI binding, abolishes lipid transfer activity, and causes ABL. On the other hand, the hypolipidemia in the other two patients was not due to MTP dysfunction. Thus, in this study of five missense mutations spread throughout MTP's three structural domains found in three hypolipidemic patients, we found that four of the mutations did not affect MTP function. Thus, novel mutations that cause severe hypolipidemia probably exist in other genes in these patients, and their recognition may identify novel proteins involved in the synthesis and/or catabolism of plasma lipoproteins.
[Mh] MeSH terms primary: Abetalipoproteinemia/genetics
Carrier Proteins/chemistry
Carrier Proteins/genetics
Hypobetalipoproteinemias/genetics
Mutation, Missense/genetics
[Mh] MeSH terms secundary: Abetalipoproteinemia/blood
Amino Acid Sequence
Animals
Apolipoproteins B/metabolism
COS Cells
Cercopithecus aethiops
Child
Computer Simulation
Endoplasmic Reticulum/metabolism
Gene Expression Regulation
Humans
Hypobetalipoproteinemias/blood
Infant
Lipid Metabolism/genetics
Male
Phenotype
Protein Binding
Protein Disulfide-Isomerases/metabolism
Sequence Alignment
Structure-Activity Relationship
Triglycerides/metabolism
Vitamins/blood
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Apolipoproteins B); 0 (Carrier Proteins); 0 (Triglycerides); 0 (Vitamins); 0 (microsomal triglyceride transfer protein); EC 5.3.4.1 (Protein Disulfide-Isomerases)
[Em] Entry month:1711
[Cu] Class update date: 171103
[Lr] Last revision date:171103
[Js] Journal subset:IM
[Da] Date of entry for processing:160804
[St] Status:MEDLINE

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[PMID]: 27266643
[Au] Autor:Ben Ameur S; Aloulou H; Jlidi N; Kamoun F; Chabchoub I; Di Filippo M; Sfaihi L; Hachicha M
[Ad] Address:Hedi Chaker Hospital, Department of pediatrics, 3029 Sfax, Tunisia; Faculty of medicine, Sfax, Tunisia. Electronic address: benameursalma@gmail.com.
[Ti] Title:Chylomicron retention disease: A rare cause of chronic diarrhea.
[So] Source:Arch Pediatr;23(7):735-7, 2016 Jul.
[Is] ISSN:1769-664X
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:Chylomicron retention disease (CRD) is a rare autosomal recessive hereditary hypocholesterolemic disorder. The disease most frequently presents in infants and is characterized by a lipid malabsorption syndrome with steatorrhea, chronic diarrhea, and growth retardation. The disease is characterized by normal fasting serum triglyceride levels combined with the absence of apolipoprotein (apo) B48 and chylomicrons after a fat load. In this report, we describe the clinical, laboratory, and histological data as well as the molecular DNA analysis of a 12-month-old girl from Tunisia with CRD. The patient was treated with a low-fat diet and fat-soluble vitamin supplementation resulting in significant improvement.
[Mh] MeSH terms primary: Diarrhea/etiology
Hypobetalipoproteinemias/complications
Malabsorption Syndromes/complications
[Mh] MeSH terms secundary: Chronic Disease
Failure to Thrive/etiology
Female
Humans
Hypobetalipoproteinemias/diagnosis
Hypobetalipoproteinemias/genetics
Infant
Malabsorption Syndromes/diagnosis
Malabsorption Syndromes/genetics
Monomeric GTP-Binding Proteins/genetics
Mutation
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:EC 3.6.1.- (SAR1B protein, human); EC 3.6.5.2 (Monomeric GTP-Binding Proteins)
[Em] Entry month:1704
[Cu] Class update date: 170425
[Lr] Last revision date:170425
[Js] Journal subset:IM
[Da] Date of entry for processing:160609
[St] Status:MEDLINE

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[PMID]: 27236148
[Au] Autor:Mateos-Muñoz B; Devesa-Medina MJ; Matía-Martín MP; Torrejón MJ; Suárez A; Larrad-Sáinz A; Rey-Díaz-Rubio E; Cárdenas MC; Ortega-Medina L; Ladero JM
[Ad] Address:Services of Gastroenterology Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
[Ti] Title: The relation of fibrosis stage with nutritional deficiencies and bioelectrical impedance analysis of body composition in patients with chronic hepatitis C.
[So] Source:Ann Hepatol;15(4):492-500, 2016 Jul-Aug.
[Is] ISSN:1665-2681
[Cp] Country of publication:Mexico
[La] Language:eng
[Ab] Abstract:UNLABELLED:  Background. Nutritional deficiencies may aggravate the course of chronic hepatitis C (CHC). Our aim has been to perform a comprehensive analysis of body composition and nutritional deficiencies in CHC patients in non-cirrhotic and compensated cirrhotic stages to correlate the detected deficiencies with the fibrosis stage. MATERIAL AND METHODS: Body multifrequency bioimpedance analysis (BIA) and a wide and simultaneous analytical profile were prospectively performed in 74 CHC patients (36 male) with known METAVIR fibrosis stage established with liver biopsy or transient elastography. Results were analyzed to identify deviations from the normal range and variations according to the fibrosis stage. RESULTS: Body fat compartment was greater in women. Body composition did not change among the 4 stages of liver fibrosis. Low levels (< 30 µg/L) of vitamin D were detected in 74.3% of patients irrespective of the fibrosis stage. Most analytical results remained into the normal range with the exceptions of thrombocytopenia and vitamin A deficiency, that were limited to the stage 4 of fibrosis, and low Zn and LDL-cholesterol values, that were frequently found in patients with advanced (F3 and F4) fibrosis stage. CONCLUSION: Body composition and most biochemical parameters, including cyanocobalamin, folic acid and vitamin E, are well preserved in compensated patients with CHC, with the exception of generalized vitamin D insufficiency and of deficiencies of vitamin A and zinc that are restricted to the more advanced, although still compensated, stages of the disease.
[Mh] MeSH terms primary: Body Composition
Hepatitis C, Chronic/blood
Hypobetalipoproteinemias/blood
Liver Cirrhosis/blood
Vitamin A Deficiency/blood
Vitamin D Deficiency/blood
Zinc/blood
[Mh] MeSH terms secundary: Aged
Biopsy
Cholesterol, LDL/blood
Elasticity Imaging Techniques
Electric Impedance
Female
Folic Acid/blood
Hepatitis C, Chronic/epidemiology
Humans
Hypobetalipoproteinemias/epidemiology
Liver/diagnostic imaging
Liver/pathology
Liver Cirrhosis/diagnostic imaging
Liver Cirrhosis/epidemiology
Male
Malnutrition/blood
Malnutrition/epidemiology
Middle Aged
Severity of Illness Index
Thrombocytopenia/epidemiology
Vitamin A Deficiency/epidemiology
Vitamin B 12/blood
Vitamin D Deficiency/epidemiology
Vitamin E/blood
Zinc/deficiency
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Cholesterol, LDL); 1406-18-4 (Vitamin E); 935E97BOY8 (Folic Acid); J41CSQ7QDS (Zinc); P6YC3EG204 (Vitamin B 12)
[Em] Entry month:1702
[Cu] Class update date: 170817
[Lr] Last revision date:170817
[Js] Journal subset:IM
[Da] Date of entry for processing:160529
[St] Status:MEDLINE

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[PMID]: 27206948
[Au] Autor:Miller SA; Hooper AJ; Mantiri GA; Marais D; Tanyanyiwa DM; McKnight J; Burnett JR
[Ad] Address:School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia.
[Ti] Title:Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia.
[So] Source:J Clin Lipidol;10(3):604-9, 2016 May-Jun.
[Is] ISSN:1933-2874
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: One genetic cause of markedly low plasma concentrations of apolipoprotein (apo) B and low density lipoprotein (LDL)-cholesterol is familial hypobetalipoproteinemia. OBJECTIVE: We aimed to determine the molecular basis for the marked hypocholesterolemia consistent with heterozygous familial hypobetalipoproteinemia in a black female subject of Xhosa lineage. METHODS: Coding regions of APOB, MTTP, PCSK9,ANGPTL3, SAR1B and APOC3 were sequenced, and APOE was genotyped. COS-7 cells were transfected with plasmids containing apoB variants. Western blotting was used to detect cellular and secreted apoB, and co-immunoprecipitation performed to assess binding with the microsomal triglyceride transfer protein (MTP). RESULTS: Sequence analysis of the APOB gene revealed her to be heterozygous for two novel variants, c.751G>A (A224T) and c.2854G>C (V925L). She was also homozygous for the APOEε2 allele, and did not carry a PCSK9 loss-of-function mutation. Although Ala(224) is within the postulated MTP binding region in apoB, it is not conserved among mammalian species. Subsequent genotyping showed that Ala224Thr is found in a southern African population (n=654) with an allele frequency of 1.15% and is not associated with plasma lipid levels. Val(925), like Ala(224), is within the N-terminal 1000 amino acids required for lipoprotein assembly, but was not found in the population screen. However, in vitro studies showed that apoB V925L did not affect apoB48 production or secretion nor have a deleterious effect on MTP interaction with apoB. CONCLUSION: Taken together, this suggests that the hypocholesterolemia in our case may be a result of being homozygous for APOEε2 with a low baseline cholesterol.
[Mh] MeSH terms primary: African Continental Ancestry Group/genetics
Apolipoproteins B/genetics
Hypobetalipoproteinemias/genetics
Mutation, Missense
[Mh] MeSH terms secundary: Adult
Animals
Apolipoproteins B/chemistry
Apolipoproteins E/genetics
COS Cells
Cercopithecus aethiops
Female
Homozygote
Humans
Models, Molecular
Protein Domains
South Africa/ethnology
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Apolipoproteins B); 0 (Apolipoproteins E)
[Em] Entry month:1710
[Cu] Class update date: 171002
[Lr] Last revision date:171002
[Js] Journal subset:IM
[Da] Date of entry for processing:160522
[St] Status:MEDLINE


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