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abetalipoproteinemia

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https://www.readbyqxmd.com/read/27578136/a-tale-of-2-cousins-an-atypical-and-a-typical-case-of-abetalipoproteinemia
#1
Martine Paquette, Robert Dufour, Robert A Hegele, Alexis Baass
Abetalipoproteinemia (ABL) is a rare recessive genetic disease caused by mutations of the MTTP gene. This disease is characterised by a defect in the lipidation of APO B and the absence of VLDL and chylomicron production. Patients affected by ABL present neurological, hemalogical and gastro-intestinal symptoms due to deficiency in lipophilic vitamins and fat malabsorption. We herein report the case of two cousins, one presenting classical symptoms of abetalipoproteinemia and one presenting a much attenuated phenotype...
July 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27487388/structure-function-analyses-of-microsomal-triglyceride-transfer-protein-missense-mutations-in-abetalipoproteinemia-and-hypobetalipoproteinemia-subjects
#2
Meghan T Walsh, Enza Di Leo, Ilyas Okur, Patrizia Tarugi, M Mahmood Hussain
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...
November 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27179706/identification-of-novel-apob-mutations-by-targeted-next-generation-sequencing-for-the-molecular-diagnosis-of-familial-hypobetalipoproteinemia
#3
Antoine Rimbert, Matthieu Pichelin, Simon Lecointe, Marie Marrec, Solena Le Scouarnec, Elias Barrak, Mikael Croyal, Michel Krempf, Hervé Le Marec, Richard Redon, Jean-Jacques Schott, Jocelyne Magré, Bertrand Cariou
BACKGROUND AND AIMS: Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder characterized by decreased plasma levels of LDL-cholesterol and apolipoprotein B (ApoB). Currently, genetic diagnosis in FHBL relies largely on Sanger sequencing to identify APOB and PCSK9 gene mutations and on western blotting to detect truncated ApoB species. METHODS: Here, we applied targeted enrichment and next-generation sequencing (NGS) on a panel of three FHBL genes and two abetalipoproteinemia genes (APOB, PCSK9, ANGPTL3, MTTP and SAR1B)...
July 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27160094/microsomal-triglyceride-transfer-protein-gene-mutations-in-turkish-children-a-novel-mutation-and-clinical-follow-up
#4
Mehmet Gündüz, Eda Özaydın, Müge Büyüktaşlı Atar, Nevra Koç, Ceyda Kırsaçlıoğlu, Gülşen Köse, Angelo Baldassare Cefalù, Maurizio Averna, Patrizia Tarugi
Abetalipoproteinemia (ABL; OMIM 200100) is a rare autosomal recessive disease that affects the absorption of dietary fats and fat soluble vitamins. Here, we describe the clinical and genetic characteristics of three patients with ABL. Two patients (patients 1 and 2) who were carriers of the c.398-399delAA mutation (previously known mutation) had developmental delay and hepatic steatosis developed at the age of five in patient 1. Patient 3 was the carrier of a novel mutation (g.10886-10902delAAGgtaagtttgtgttg in intron 3 and c...
May 2016: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/26630090/hypolipidemia-in-a-special-operations-candidate-case-report-and-review-of-the-literature
#5
REVIEW
Jonathan E Strain, John A Vigilante, Nicholas W DiGeorge
BACKGROUND: A 19-year-old male military recruit who presented for a screening physical for US Naval Special Warfare Duty was found to have hypolipidemia. Medical history revealed mildly increased frequency of bowel movements, but was otherwise unremarkable. His presentation was most consistent with heterozygous familial hypobetalipoproteinemia (FHBL), and the patient was cleared for Special Operations duty. METHODS: A literature search was conducted using PubMed/MEDLINE...
2015: Journal of Special Operations Medicine: a Peer Reviewed Journal for SOF Medical Professionals
https://www.readbyqxmd.com/read/26612772/homozygous-familial-hypobetalipoproteinemia-a-turkish-case-carrying-a-missense-mutation-in-apolipoprotein-b
#6
Berna Seker Yilmaz, Neslihan Onenli Mungan, Enza Di Leo, Lucia Magnolo, Lucia Artuso, Isabella Bernardis, Gokhan Tumgor, Deniz Kor, Patrizia Tarugi
The autosomal co-dominant disorder familial hypobetalipoproteinemia (FHBL) may be due to mutations in the APOB gene encoding apolipoprotein B (apoB), the main constituent peptide of chylomicrons, very low and low density lipoproteins. We describe an 11month-old child with failure to thrive, intestinal lipid malabsorption, hepatic steatosis and severe hypobetalipoproteinemia, suggesting the diagnosis of homozygous FHBL, abetalipoproteinemia (ABL) or chylomicron retention disease (CMRD). The analysis of candidate genes showed that patient was homozygous for a variant (c...
January 15, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/26546829/update-on-the-molecular-biology-of-dyslipidemias
#7
REVIEW
I Ramasamy
Dyslipidemia is a commonly encountered clinical condition and is an important determinant of cardiovascular disease. Although secondary factors play a role in clinical expression, dyslipidemias have a strong genetic component. Familial hypercholesterolemia is usually due to loss-of-function mutations in LDLR, the gene coding for low density lipoprotein receptor and genes encoding for proteins that interact with the receptor: APOB, PCSK9 and LDLRAP1. Monogenic hypertriglyceridemia is the result of mutations in genes that regulate the metabolism of triglyceride rich lipoproteins (eg LPL, APOC2, APOA5, LMF1, GPIHBP1)...
February 15, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/26458397/mttp-297h-polymorphism-reduced-serum-cholesterol-but-increased-risk-of-non-alcoholic-fatty-liver-disease-a-cross-sectional-study
#8
Pi-Jung Hsiao, Mei-Yueh Lee, Yeng-Tseng Wang, He-Jiun Jiang, Pi-Chen Lin, Yi-Hsin Connie Yang, Kung-Kai Kuo
BACKGROUND: Microsomal triglyceride transfer protein (MTP) works to lipidate and assemble the apoB-containing lipoproteins in liver. It closely links up the hepatic secretion of lipid to regulate serum lipid and atherosclerosis. Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarkable hepatic steatosis or cirrhosis. Several MTTP polymorphisms have been reported relating to metabolic syndrome, hyperlipidemia and steatohepatitis. We supposed the regulation of serum lipids and risk of non-alcoholic fatty liver disease (NAFLD) formation may be modified by individual susceptibility related to the MTTP polymorphisms...
October 12, 2015: BMC Medical Genetics
https://www.readbyqxmd.com/read/26350457/microsomal-triglyceride-transfer-protein-transfers-and-determines-plasma-concentrations-of-ceramide-and-sphingomyelin-but-not-glycosylceramide
#9
Jahangir Iqbal, Meghan T Walsh, Samar M Hammad, Marina Cuchel, Patrizia Tarugi, Robert A Hegele, Nicholas O Davidson, Daniel J Rader, Richard L Klein, M Mahmood Hussain
Sphingolipids, a large family of bioactive lipids, are implicated in stress responses, differentiation, proliferation, apoptosis, and other physiological processes. Aberrant plasma levels of sphingolipids contribute to metabolic disease, atherosclerosis, and insulin resistance. They are fairly evenly distributed in high density and apoB-containing lipoproteins (B-lps). Mechanisms involved in the transport of sphingolipids to the plasma are unknown. Here, we investigated the role of microsomal triglyceride transfer protein (MTP), required for B-lp assembly and secretion, in sphingolipid transport to the plasma...
October 23, 2015: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/26224785/novel-abetalipoproteinemia-missense-mutation-highlights-the-importance-of-the-n-terminal-%C3%AE-barrel-in-microsomal-triglyceride-transfer-protein-function
#10
Meghan T Walsh, Jahangir Iqbal, Joby Josekutty, James Soh, Enza Di Leo, Eda Özaydin, Mehmet Gündüz, Patrizia Tarugi, M Mahmood Hussain
BACKGROUND: The use of microsomal triglyceride transfer protein (MTP) inhibitors is limited to severe hyperlipidemias because of associated hepatosteatosis and gastrointestinal adverse effects. Comprehensive knowledge about the structure-function of MTP might help design new molecules that avoid steatosis. Characterization of mutations in MTP causing abetalipoproteinemia has revealed that the central α-helical and C-terminal β-sheet domains are important for protein disulfide isomerase binding and lipid transfer activity...
October 2015: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/26086616/vitamin-e-and-oxidative-stress-in-abetalipoproteinemia-and-familial-hypobetalipoproteinemia
#11
REVIEW
John R Burnett, Amanda J Hooper
Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are genetic diseases characterized by low density lipoprotein deficiency. ABL presents early in life with the gastroenterological manifestations of fat malabsorption, steatorrhea, and failure to thrive, and later in life, with progressive ophthalmopathy and neuropathy as a result of deficiency of the fat-soluble vitamins A and E. Heterozygous FHBL subjects are usually asymptomatic, but may develop fatty liver disease. In homozygous (compound heterozygous) FHBL, the clinical and biochemical features are indistinguishable from those of ABL and treatment recommendations are the same: dietary fat restriction to prevent steatorrhea, and long-term high-dose vitamin E and A supplementation to prevent or at least slow the progression of neuromuscular and retinal degenerative disease...
November 2015: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/26073401/the-janus-faced-manifestations-of-homozygous-familial-hypobetalipoproteinemia-due-to-apolipoprotein-b-truncations
#12
Enza Di Leo, Tuba Eminoglu, Lucia Magnolo, Musa Gökalp Bolkent, Leyla Tümer, Ilyas Okur, Patrizia Tarugi
Familial hypobetalipoproteinemia is a codominant disorder characterized by low plasma levels of low-density lipoprotein cholesterol and apolipoprotein B (apoB), which in ∼50% of the cases is due to mutations in APOB gene. In most cases, these mutations cause the formation of truncated apoBs of various sizes, which have a reduced capacity to bind lipids and form lipoprotein particles. Here, we describe 2 children with severe hypobetalipoproteinemia found to be homozygous for novel APOB gene mutations. The first case (HBL-201) was an asymptomatic 13-year-old boy incidentally found to have slightly elevated serum transaminases associated with hepatic steatosis...
May 2015: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/26062159/fat-accumulation-in-enterocytes-a-key-to-the-diagnosis-of-abetalipoproteinemia-or-homozygous-hypobetalipoproteinemia
#13
Lobke Desomer, Martine De Vos, Danny De Looze
No abstract text is available yet for this article.
2015: Endoscopy
https://www.readbyqxmd.com/read/25763510/extreme-contrast-of-postprandial-remnant-like-particles-formed-in-abetalipoproteinemia-and-homozygous-familial-hypobetalipoproteinemia
#14
Masa-Aki Kawashiri, Hayato Tada, Marowa Hashimoto, Matsuo Taniyama, Takamitsu Nakano, Katsuyuki Nakajima, Takeshi Inoue, Mika Mori, Chiaki Nakanishi, Tetsuo Konno, Kenshi Hayashi, Atsushi Nohara, Akihiro Inazu, Junji Koizumi, Hirotaka Ishihara, Junji Kobayashi, Tsutomu Hirano, Hiroshi Mabuchi, Masakazu Yamagishi
BACKGROUND: Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are rare inherited forms of hypolipidemia. Their differential diagnosis is important for predicting of the prognosis and selecting appropriate therapy. MATERIALS AND METHODS: Genetic analysis was performed in two patients with primary hypocholesterolemia born from consanguineous parents. The oral fat tolerance test (OFTT) was performed in one patient with FHBL (apoB-87.77) and one with ABL as well as in four normal control subjects...
2015: JIMD Reports
https://www.readbyqxmd.com/read/25552696/contemporary-aspects-of-the-biology-and-therapeutic-regulation-of-the-microsomal-triglyceride-transfer-protein
#15
REVIEW
Amanda J Hooper, John R Burnett, Gerald F Watts
The microsomal triglyceride transfer protein (MTP), the product of the MTTP gene, is essential for the assembly and secretion of apolipoprotein B-containing lipoproteins, but when defective causes abetalipoproteinemia. Abetalipoproteinemia is a rare autosomal recessive disorder characterized by the inability to produce chylomicrons or very low-density lipoproteins, with the absence of apolipoprotein B-containing lipoproteins in the circulation. Knowledge of the molecular basis for abetalipoproteinemia has led to the development of therapies for dyslipidemia that inhibit MTP...
January 2, 2015: Circulation Research
https://www.readbyqxmd.com/read/25488886/a-successful-spontaneous-pregnancy-in-abetalipoproteinemia-amsterdam-or-the-art-of-vitamin-replacement
#16
REVIEW
Francisca Ferreira, Vinod Patel, Suzy Matts
Abetalipoproteinemia is a rare metabolic disorder that causes disturbed lipid absorption with consequent hypocholesterolaemia and liposoluble avitaminosis. The broad spectrum of presentations includes malabsorption, failure to thrive and acanthocytosis in children, while later in life expected manifestations include coagulopathy, myopathy, retinitis pigmentosa, peripheral neuropathy, hyporeflexia and ataxia. These neurological complications stem from demyelination secondary to vitamin E deficiency. Another complication is reduced fertility in women...
December 8, 2014: BMJ Case Reports
https://www.readbyqxmd.com/read/25387865/insights-from-human-congenital-disorders-of-intestinal-lipid-metabolism
#17
REVIEW
Emile Levy
The intestine must challenge the profuse daily flux of dietary fat that serves as a vital source of energy and as an essential component of cell membranes. The fat absorption process takes place in a series of orderly and interrelated steps, including the uptake and translocation of lipolytic products from the brush border membrane to the endoplasmic reticulum, lipid esterification, Apo synthesis, and ultimately the packaging of lipid and Apo components into chylomicrons (CMs). Deciphering inherited disorders of intracellular CM elaboration afforded new insight into the key functions of crucial intracellular proteins, such as Apo B, microsomal TG transfer protein, and Sar1b GTPase, the defects of which lead to hypobetalipoproteinemia, abetalipoproteinemia, and CM retention disease, respectively...
May 2015: Journal of Lipid Research
https://www.readbyqxmd.com/read/25108285/novel-missense-mttp-gene-mutations-causing-abetalipoproteinemia
#18
Sharon A Miller, John R Burnett, Mike A Leonis, C James McKnight, Frank M van Bockxmeer, Amanda J Hooper
OBJECTIVE: The microsomal triglyceride transfer protein (MTTP) plays a critical role in the formation of hepatic very low density lipoprotein. Abetalipoproteinemia (ABL) is a rare, naturally occurring extreme form of MTTP inhibition, which is characterized by the virtual absence of apolipoprotein (apo) B-containing lipoproteins in blood. The goal of this study was to examine the effect that four novel MTTP missense mutations had on protein interactions, expression and lipid-transfer activity, and to determine which mutations were responsible for the ABL phenotype observed in two patients...
October 2014: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/25000351/intractable-diarrhea-of-infancy-10-years-of-experience
#19
Hayriye Hizarcioglu-Gulsen, Inci N Saltik-Temizel, Hulya Demir, Figen Gurakan, Hasan Ozen, Aysel Yuce
OBJECTIVES: Intractable diarrhea of infancy (IDI), a group of prolonged diarrheal disorders, is difficult to diagnose and manage. We documented general features of patients and the causes of IDI. METHODS: The present retrospective study included 60 hospitalized patients with IDI ages 0 to 24 months during January 2000 to December 2010. Detailed history, laboratory and endoscopic findings, diagnoses, and clinical courses were reviewed. Descriptive analyses were used for statistical evaluation...
November 2014: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/24842304/homozygous-mttp-and-apob-mutations-may-lead-to-hepatic-steatosis-and-fibrosis-despite-metabolic-differences-in-congenital-hypocholesterolemia
#20
Mathilde Di Filippo, Philippe Moulin, Pascal Roy, Marie Elisabeth Samson-Bouma, Sophie Collardeau-Frachon, Sabrina Chebel-Dumont, Noël Peretti, Jérôme Dumortier, Fabien Zoulim, Thierry Fontanges, Rossella Parini, Miriam Rigoldi, Francesca Furlan, Grazia Mancini, Dominique Bonnefont-Rousselot, Eric Bruckert, Jacques Schmitz, Jean Yves Scoazec, Sybil Charrière, Sylvie Villar-Fimbel, Frederic Gottrand, Béatrice Dubern, Diane Doummar, Francesca Joly, Marie Elisabeth Liard-Meillon, Alain Lachaux, Agnès Sassolas
BACKGROUND & AIMS: Non-alcoholic steatohepatitis leading to fibrosis occurs in patients with abetalipoproteinemia (ABL) and homozygous or compound heterozygous familial hypobetalipoproteinemia (Ho-FHBL). We wanted to establish if liver alterations were more frequent in one of both diseases and were influenced by comorbidities. METHODS: We report genetic, clinical, histological and biological characteristics of new cases of ABL (n =7) and Ho-FHBL (n = 7), and compare them with all published ABL (51) and Ho-FHBL (22) probands...
October 2014: Journal of Hepatology
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