Presentation is loading. Please wait.

Presentation is loading. Please wait.

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia 

Published bySzymon Skowroński Modified over 5 years ago

Similar presentations

Presentation on theme: "Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia "— Presentation transcript:

1 Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia  Paola Conca, PhD, Silvana Pileggi, PhD, Sara Simonelli, PhD, Emanuela Boer, MD, Giuliano Boscutti, MD, Lucia Magnolo, PhD, Patrizia Tarugi, PhD, Silvana Penco, PhD, Guido Franceschini, PhD, Laura Calabresi, PhD, Monica Gomaraschi, PhD  Journal of Clinical Lipidology  Volume 6, Issue 3, Pages (May 2012) DOI: /j.jacl Copyright © 2012 National Lipid Association Terms and Conditions

2 Figure 1 Pedigree of the family. The proband is indicated by an arrow. Left or right filled symbols indicate heterozygous carriers of LCAT (black) and apoB (gray) variants; white symbols indicate noncarrier relatives (square, male; circle, female). Slashed symbols indicate deceased individuals; N/A indicates family members not available for analysis. Journal of Clinical Lipidology 2012 6, DOI: ( /j.jacl ) Copyright © 2012 National Lipid Association Terms and Conditions

3 Figure 2 Pre- and post-transplantation lipid and apolipoprotein levels. Proband’s plasma levels of HDL-C, apoA-I, and apoA-II measured during hemodialysis (pre-transplant) and 10 months after the second renal transplant (post-transplant) are shown. Journal of Clinical Lipidology 2012 6, DOI: ( /j.jacl ) Copyright © 2012 National Lipid Association Terms and Conditions

4 Figure 3 Pre- and post-transplantation HDL subclass distribution. A, Plasma levels of HDL containing only apoA-I (LpA-I) and HDL containing both apoA-I and apoA-II (LpA-I:A-II) measured during hemodialysis (pre-transplant) and 10 months after the second renal transplant (post-transplant). B, Representative 2D-electrophoresis developed against apoA-I and percentage of preβ-HDL by densitometry evaluated on proband’s plasma samples collected during hemodialysis (pre-transplant) and 10 months after the second renal transplantation (post-transplant). Journal of Clinical Lipidology 2012 6, DOI: ( /j.jacl ) Copyright © 2012 National Lipid Association Terms and Conditions

5 Figure 4 Pre- and post-transplantation plasma cholesterol esterification. Unesterified/total cholesterol ratio (UC/TC), plasma level of LCAT, cholesterol esterification rate (CER), and LCAT activity measured during hemodialysis (pre-transplant), and 10 months after the second renal transplant (post-transplant). Journal of Clinical Lipidology 2012 6, DOI: ( /j.jacl ) Copyright © 2012 National Lipid Association Terms and Conditions

Download ppt "Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia "

Similar presentations

Corn oil improves the plasma lipoprotein lipid profile compared with extra-virgin olive oil consumption in men and women with elevated cholesterol: Results.

Corn oil improves the plasma lipoprotein lipid profile compared with extra-virgin olive oil consumption in men and women with elevated cholesterol: Results.
Kuan-Rau Chiou, MD, Chien-Tung Chu, MD, Min-Ji Charng, MD, PhD 

Kuan-Rau Chiou, MD, Chien-Tung Chu, MD, Min-Ji Charng, MD, PhD 
Interrupting bile-acid handling and lipid and glucose control: Effects of colesevelam on glucose levels  Michael H. Davidson, MD  Journal of Clinical.

Interrupting bile-acid handling and lipid and glucose control: Effects of colesevelam on glucose levels  Michael H. Davidson, MD  Journal of Clinical.
Wijtske Annema, PhD, Hendrik M

Wijtske Annema, PhD, Hendrik M
Lipid abnormalities in foreign-born and US-born patients in a medical group  Jawali Jaranilla, MD, MPH, Terese DeFor, MS, Gabriela Vazquez Benitez, PhD,

Lipid abnormalities in foreign-born and US-born patients in a medical group  Jawali Jaranilla, MD, MPH, Terese DeFor, MS, Gabriela Vazquez Benitez, PhD,
The UK Paediatric Familial Hypercholesterolaemia Register: Statin-related safety and 1- year growth data  Steve E. Humphries, PhD, FRCP, Jackie Cooper,

The UK Paediatric Familial Hypercholesterolaemia Register: Statin-related safety and 1- year growth data  Steve E. Humphries, PhD, FRCP, Jackie Cooper,
Erythrocyte long-chain omega-3 fatty acid levels are inversely associated with mortality and with incident cardiovascular disease: The Framingham Heart.

Erythrocyte long-chain omega-3 fatty acid levels are inversely associated with mortality and with incident cardiovascular disease: The Framingham Heart.
Corn oil improves the plasma lipoprotein lipid profile compared with extra-virgin olive oil consumption in men and women with elevated cholesterol: Results.

Corn oil improves the plasma lipoprotein lipid profile compared with extra-virgin olive oil consumption in men and women with elevated cholesterol: Results.
Volume 9, Issue 1, Pages (January 2012)

Volume 9, Issue 1, Pages (January 2012)
An assessment by the Statin Muscle Safety Task Force: 2014 update

An assessment by the Statin Muscle Safety Task Force: 2014 update
An assessment by the Statin Liver Safety Task Force: 2014 update

An assessment by the Statin Liver Safety Task Force: 2014 update
Purified palmitoleic acid for the reduction of high-sensitivity C-reactive protein and serum lipids: A double-blinded, randomized, placebo controlled.

Purified palmitoleic acid for the reduction of high-sensitivity C-reactive protein and serum lipids: A double-blinded, randomized, placebo controlled.
Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant  Coloma Tiron, Oscar Campuzano, Alexandra.

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant  Coloma Tiron, Oscar Campuzano, Alexandra.
Efficacy and safety of gemcabene as add-on to stable statin therapy in hypercholesterolemic patients  Evan Stein, MD, Harold Bays, MD, Michael Koren,

Efficacy and safety of gemcabene as add-on to stable statin therapy in hypercholesterolemic patients  Evan Stein, MD, Harold Bays, MD, Michael Koren,
Association of triglyceride-to-high density lipoprotein cholesterol ratio to cardiorespiratory fitness in men  Gloria Lena Vega, PhD, Scott M. Grundy,

Association of triglyceride-to-high density lipoprotein cholesterol ratio to cardiorespiratory fitness in men  Gloria Lena Vega, PhD, Scott M. Grundy,
Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia  Piero Pingitore, PhD, Saverio Massimo.

Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia  Piero Pingitore, PhD, Saverio Massimo.
Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family  Laurent Garderet,

Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family  Laurent Garderet,
Icosapent ethyl (eicosapentaenoic acid ethyl ester): Effects on plasma apolipoprotein C- III levels in patients from the MARINE and ANCHOR studies  Christie.

Icosapent ethyl (eicosapentaenoic acid ethyl ester): Effects on plasma apolipoprotein C- III levels in patients from the MARINE and ANCHOR studies  Christie.
Predictors of first-year statin medication discontinuation: A cohort study  Heli Halava, MD, Risto Huupponen, MD, PhD, Jaana Pentti, BSc, Mika Kivimäki,

Predictors of first-year statin medication discontinuation: A cohort study  Heli Halava, MD, Risto Huupponen, MD, PhD, Jaana Pentti, BSc, Mika Kivimäki,
A comparison of the effects of low- and high-dose atorvastatin on lipoprotein metabolism and inflammatory cytokines in type 2 diabetes: Results from the.

A comparison of the effects of low- and high-dose atorvastatin on lipoprotein metabolism and inflammatory cytokines in type 2 diabetes: Results from the.

Similar presentations

Ads by Google