Article
Biology
Hanzhi Zhang, Ching-Shin Huang, Xinchao Yu, Jonas Lee, Amit Vaish, Qing Chen, Mingyue Zhou, Zhulun Wang, Xiaoshan Min
Summary: The study presents the cryo-EM structure of ABC transporters ABCG5/G8 with Fab fragments from two monoclonal antibodies, providing insights into the transport cycle and potential therapeutic interventions. The high-resolution structure reveals a unique dimer interface and novel epitopes for potential therapeutic interventions.
COMMUNICATIONS BIOLOGY
(2021)
Article
Hematology
Eythor Bjornsson, Gudmundur Thorgeirsson, Anna Helgadottir, Gudmar Thorleifsson, Gardar Sveinbjornsson, Snaedis Kristmundsdottir, Hakon Jonsson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Thorarinn Gudnason, Isleifur Olafsson, Emil L. Sigurdsson, Olof Sigurdardottir, Brynjar Vidarsson, Magnus Baldvinsson, Ragnar Bjarnason, Ragnar Danielsen, Stefan E. Matthiasson, Bjorn L. Thorarinsson, Solveig Gretarsdottir, Valgerdur Steinthorsdottir, Bjarni Halldorsson, Karl Andersen, David O. Arnar, Ingileif Jonsdottir, Daniel F. Gudbjartsson, Hilma Holm, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson
Summary: The study found that clinically defined familial hypercholesterolemia is a relatively common phenotype, but only a minority of cases are explained by monogenic FH. Both individuals with monogenic FH and individuals with mutation-negative clinical FH are markedly undertreated, with only a minority achieving the recommended LDL-C target levels.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Danny Farhat, Fatemeh Rezaei, Milica Ristovski, Yidai Yang, Albert Stancescu, Lucia Dzimkova, Sabrina Samnani, Jean-Francois Couture, Jyh-Yeuan Lee
Summary: The ATP-binding cassette (ABC) sterol transporters play important roles in maintaining cholesterol homeostasis and preventing abnormal accumulation of plant sterols. The crystal structure analysis of ABCG5/G8 suggests a sterol-binding site and reveals its functional implications in cholesterol/sterol transport. Furthermore, docking analysis reveals the sterol-binding selectivity of ABCG5/G8, providing insights into its physiological role.
JOURNAL OF MOLECULAR BIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Davide Noto, Rossella Spina, Antonina Giammanco, Carlo M. Barbagallo, Antonina Ganci, Chiara Scrimali, Federica Brucato, Gabriella Misiano, Marcello Ciaccio, Rosalia Caldarella, Angelo B. Cefalu, Maurizio Averna
Summary: This study described the characteristics of FH patients in a large cohort and evaluated the performance of the DLCN score in a retrospective case study. The results showed that gene variant carriers had higher LDL-C levels and DLCN scores, lower HDL-C levels, and a higher prevalence of cardiovascular events and atherosclerotic plaques compared to non-carriers. Additionally, LDL-C levels were found to be more predictive of FH gene variants than the DLCN score.
Review
Biochemistry & Molecular Biology
Fatemeh Rezaei, Danny Farhat, Gonca Gursu, Sabrina Samnani, Jyh-Yeuan Lee
Summary: The subfamily-G ATP-binding cassette (ABCG) transporters are important for regulating cholesterol homeostasis. Recent structural data of ABCG1 and ABCG5/G8 reveal potential sterol binding sites and a proposed cholesterol translocation pathway. Both ABCG1 and ABCG5/G8 share similar overall molecular architecture and use unique structural motifs, such as the phenylalanine highway and hydrophobic valve, to facilitate cholesterol transport. However, ABCG1 exclusively transports cholesterol while ABCG5/G8 can transport both cholesterol and phytosterols. Ligand docking analysis suggests differences in recruiting sterol molecules to their binding sites. This article discusses the relevance of different and shared structural features to their physiological functions and provides perspectives for future studies on ABCG cholesterol transporters.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Libin Deng, Jingsong Xu, Wei Chen, Shicheng Guo, Robert D. Steiner, Qi Chen, Zhujun Cheng, Yanmei Xu, Bei Yao, Xiaoyan Li, Xiaozhong Wang, Keyu Deng, Steven J. Schrodi, Dake Zhang, Hongbo Xin
Summary: This study reveals that variants in the ABCG5 gene may cause macrothrombocytopenia, and treatment with Ezetimibe may improve this platelet abnormality. By paying attention to platelet size, individuals who could benefit from Ezetimibe treatment can be identified.
FRONTIERS IN GENETICS
(2021)
Article
Cardiac & Cardiovascular Systems
Anandita Agarwala, Nathan Bekele, Elena Deych, Michael W. Rich, Aliza Hussain, Laney K. Jones, Amy C. Sturm, Karen Aspry, Elizabeth Nowak, Zahid Ahmad, Christie M. Ballantyne, Anne C. Goldberg
Summary: Black patients with familial hypercholesterolemia have similar prevalence of ASCVD compared to European Ancestry patients, but show greater prevalence of modifiable risk factors such as obesity, hypertension, diabetes, and smoking. They also have lower usage of lipid-lowering agents. The strongest predictors of ASCVD in Black patients were hypertension and cigarette smoking, indicating the importance of managing blood pressure and promoting smoking cessation in this population.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Cardiac & Cardiovascular Systems
Brandon K. Bellows, Amit Khera, Yiyi Zhang, Natalia Ruiz-Negron, Henry M. Stoddard, John B. Wong, Dhruv S. Kazi, Sarah D. de Ferranti, Andrew E. Moran
Summary: Screening for FH using a combination of clinical criteria with genetic testing may increase identification and the opportunity for early treatment of individuals with FH.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Review
Genetics & Heredity
Linda C. Zuurbier, Joep C. Defesche, Albert Wiegman
Summary: The genetic screening program for familial hypercholesterolemia in the Netherlands, which ran from 1994 to 2014, identified at least 1500 cases annually and continued despite government funding cuts. The program led to the development of more sophisticated diagnostic tools, clinical collaborations, and new molecular-based treatments for FH patients. Additionally, the screening expanded to include other heritable dyslipidemias, utilizing a diagnostic next-generation sequencing panel that identified more patients prone to cardiovascular diseases and provided more personalized treatment options. The NGS output also revealed a more complex dyslipidemic landscape than originally thought, highlighting continuous progress and the importance of genetics in dyslipidemia.
Review
Biochemistry & Molecular Biology
Shoa L. Clarke
Summary: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated LDL-C levels, leading to increased risk of atherosclerotic cardiovascular disease. However, FH variants can still confer risk for coronary artery disease independent of adult LDL-C levels. Longitudinal LDL-C measurements and genetic assessments may be more effective in identifying patients at greater risk.
CURRENT OPINION IN LIPIDOLOGY
(2023)
Article
Biology
Manit Nuinoon, Wutthichai Saiphak, Nantiya Nawaka, Chutima Rattanawan, Burabha Pussadhamma, Nutjaree Jeenduang
Summary: This study investigated the association between CELSR2 (rs629301), APOB100 (rs1367117), ABCG5/8 (rs6544713), LDLR (rs6511720), APOE (rs429358, rs7412) polymorphisms, and lipid levels in Thai subjects. The results showed that APOB100 and APOE gene mutations were associated with hypercholesterolemia and could be used to predict its severity.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2023)
Review
Peripheral Vascular Disease
Hayato Tada, Akihiro Nomura, Masatsune Ogura, Katsunori Ikewaki, Yasushi Ishigaki, Kyoko Inagaki, Kazuhisa Tsukamoto, Kazushige Dobashi, Kimitoshi Nakamura, Mika Hori, Kota Matsuki, Shizuya Yamashita, Shinji Yokoyama, Masa-aki Kawashiri, Mariko Harada-Shiba
Summary: Sitosterolemia is a rare inherited metabolic disorder characterized by increased levels of plant sterols, potentially sharing similar clinical manifestations with familial hypercholesterolemia, such as tendon xanthomas and premature coronary atherosclerosis.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
(2021)
Article
Biochemistry & Molecular Biology
Liv Nesse Hande, Christian Kjellmo, Kristin Pettersen, Stefan Ljunggren, Helen Karlsson, Karin Cederbrant, Maritha Marcusson-Stahl, Anders Hovland, Knut Tore Lappegard
Summary: High-dose n-3 PUFAs supplements reduce atherogenic lipoproteins in FH subjects without affecting HDL-C function.
Review
Genetics & Heredity
Sibbeliene E. van den Bosch, Willemijn E. Corpeleijn, Barbara A. Hutten, Albert Wiegman
Summary: Familial hypercholesterolemia (FH) is a hereditary disorder that causes severely elevated LDL-C levels, increasing the risk for premature cardiovascular disease. FH can be caused by genetic variants in LDLR, APOB, PCSK9, and/or LDLRAP1 genes. Early diagnosis through screening allows for effective lipid-lowering therapy and cardiovascular imaging. Recent research on the genetic basis of LDL-C metabolism has led to promising therapies, such as PCSK9 inhibitors. Novel therapies focusing on ANGPTL3 inhibition may reduce the need for apheresis in HoFH children without functional LDLR. Developing effective treatments for elevated Lp(a) levels remains a challenge, but understanding its genetic basis may lead to novel therapies.
Article
Pharmacology & Pharmacy
Robert C. Block, Matthew Bang, Amy Peterson, Nathan D. Wong, Dean G. Karalis
Summary: Cardiologists are more likely to recognize and treat HeFH patients compared to primary care physicians, but both specialties do not adequately recognize or treat HeFH. There is a need for enhanced education and training, greater access to lipid specialists, and reduced barriers for PCSK9 inhibitor use.
JOURNAL OF CLINICAL LIPIDOLOGY
(2021)
Article
Peripheral Vascular Disease
Elena M. Yubero-Serrano, Francisco M. Gutierrez-Mariscal, Purificacion Gomez-Luna, Juan F. Alcala-Diaz, Pablo Perez-Martinez, Jose Lopez-Miranda
Summary: This study analyzed the effects of two healthy diets on the intima-media thickness (IMT-CC) of carotid arteries in patients with type 2 diabetes and coronary heart disease. The results showed that reduction of AGEs levels after consuming the two healthy diets was associated with a decrease in IMT-CC.
CLINICA E INVESTIGACION EN ARTERIOSCLEROSIS
(2023)
Article
Geriatrics & Gerontology
Juan Asensio-Nogueira, Ricardo Salgado-Aranda, Ester Sanchez-Corral, Beatriz Fernandez-Gonzalez, Francisco-Javier Garcia-Fernandez, Francisco-Javier Martin-Gonzalez, Lola Villagraz-Tecedor, Marta Gomez-Llorente, Marcos Alvarez-Calderon, Jose-Angel Perez-Rivera
Summary: In this cohort study, the association between specific electrocardiogram patterns and outcomes after cardiac resynchronization therapy (CRT) was analyzed based on age. The study found that the presence of particular patterns in patients younger than 75 years old was associated with a lower incidence of all-cause death and heart failure hospitalization, while this association was not observed in patients older than 75 years old. Additionally, a longer baseline QRS duration was associated with worse outcomes in older patients but not in the younger group.
ARCHIVES OF GERONTOLOGY AND GERIATRICS
(2023)
Article
Computer Science, Interdisciplinary Applications
J. M. Ordovas, D. Rios-Insua, A. Santos-Lozano, A. Lucia, A. Torres, A. Kosgodagan, J. M. Camacho
Summary: This study constructs a Bayesian network based on a large population database and expert judgment to explore the interrelations between cardiovascular risk factors. It emphasizes the predictive assessment of medical conditions and provides a computational tool to explore and hypothesize such interrelations.
COMPUTER METHODS AND PROGRAMS IN BIOMEDICINE
(2023)
Article
Nutrition & Dietetics
Diana Maria Munoz-Perez, Clara Helena Gonzalez-Correa, Elcy Yaned Astudillo Munoz, Maite Sanchez-Giraldo, Juan Carlos Carmona-Hernandez, Jose Lopez-Miranda, Antonio Camargo, Oriol Alberto Rangel-Zuniga
Summary: Overweight and obesity are major global health issues. Healthy diets can induce molecular level changes. A study was conducted to evaluate the effect of a diet based on fruit, avocado, whole grains, and trout on obesity-related gene expression.
Article
Cardiac & Cardiovascular Systems
Rodrigo Alonso, Raquel Arroyo-Olivares, Ovidio Muniz-Grijalvo, D. Jose Luis Diaz-Diaz, Juan Sanchez Munoz-Torrero, Manuel J. Romero, Raimundo de Andres, Daniel Zambon, Maria Dolores Manas, Francisco Fuentes-Jimenez, Rocio Aguado, Pilar Alvarez-Banos, Francisco Arrieta, Pablo Gonzalez-Bustos, Jose Cepeda, Mercedes Martin-Ordiales, Daniel Mosquera, Alfredo Michan, Leopoldo Perez de Isla, Rosa Argueso, Pedro Mata
Summary: This study analyzed the persistence, efficacy, and impact on quality of life of PCSK9 inhibitors (PCSK9is) in familial hypercholesterolaemia (FH) patients in clinical practice setting. The results showed that long-term persistence with PCSK9i in FH patients was very high, and it significantly reduced LDL-C levels and achieved treatment goals.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Article
Peripheral Vascular Disease
Vicente Pascual, Jose Luis Diaz, Jesus Millan Nunez-Cortes, Pablo Perez-Martinez
Summary: In patients with atherogenic dyslipidemia, a healthy diet, regular exercise, and quitting smoking are the first steps to reduce cardiovascular risk. Improving the nutritional quality of their diet, by replacing foods with atherogenic effects with healthier alternatives, is strongly recommended. Plant-based diets low in saturated fats, cholesterol, and sodium, but high in fiber, potassium, and unsaturated fats, have proven to be beneficial in reducing cardiovascular risk factors. This article emphasizes the role of nutrition in preventing and treating atherogenic dyslipidemia, providing current evidence for healthcare professionals.
CLINICA E INVESTIGACION EN ARTERIOSCLEROSIS
(2023)
Article
Cardiac & Cardiovascular Systems
Pablo Diez-Villanueva, Cesar Jimenez-Mendez, Angel Perez, Alberto Esteban-Fernandez, Tomas Datino, Manuel Martinez-Selles, Ana Ayesta
Summary: Heart failure is a major cause of morbidity and mortality in Western countries, especially among elderly patients who are frequently hospitalized. The quadruple therapy consisting of sacubitril/valsartan, beta-blockers, mineralocorticoid receptor antagonists, and sodium-glucose cotransporter 2 inhibitors has greatly improved the treatment of heart failure with reduced ejection fraction (HFrEF) by reducing the risk of hospitalization and mortality, particularly of arrhythmic origin.
Article
Cardiac & Cardiovascular Systems
Alberto Esteban-Fernandez, Ines Gomez-Otero, Silvia Lopez-Fernandez, Miguel Rodriguez Santamarta, Francisco Pastor-Perez, Paula Fluvia-Brugues, Jose-angel Perez-Rivera, Andrea Lopez Lopez, Jose Manuel Garcia-Pinilla, Juan Luis Bonilla Palomas, Luis Almenar Bonet, Marta Cobo-Marcos, Virgilio Martinez Mateo, Javier Torres Llergo, Vanesa Alonso Fernandez, Cristina Goena Vives, Javier de Juan Baguda, Alba Maestro Benedicto, Jose Ignacio Morgado de Polavieja, Itziar Solla-Ruiz, Eduard Sole-Gonzalez, Montserrat Cardona, Javier Rekondo Olaetxea, Carolina Ortiz Cortes, Victor Martinez Dosantos, Antonio Gamez Lopez, Elvis Amao, Borja Casas Sanchez, Edgardo Alania Torres, Victor Gomez Carrillo, Daniel Garcia-Fuertes, Francisco Ridocci-Soriano
Summary: This study aimed to evaluate the implementation of heart failure guidelines in treating newly diagnosed HFrEF patients, and found that early use of quadruple therapy is feasible and can reduce emergency visits and hospitalizations for heart failure.
CLINICAL RESEARCH IN CARDIOLOGY
(2023)
Review
Cardiac & Cardiovascular Systems
Francisco Gomez-Delgado, Jose David Torres-Pena, Gema Gutierrez-Lara, Juan Luis Romero-Cabrera, Pablo Perez-Martinez
Summary: The purpose of this review is to analyze the impact of artificial sweeteners on cardiometabolic and cardiovascular disease risk. Recent evidence explores the influence of artificial sweeteners on risk factors such as obesity and type 2 diabetes mellitus. This review aims to provide an updated overview of the impact of artificial sweeteners on cardiovascular health and provide consumption recommendations.
CURRENT OPINION IN CARDIOLOGY
(2023)
Article
Nutrition & Dietetics
Francisco M. Gutierrez-Mariscal, Juan F. Alcala-Diaz, Gracia M. Quintana-Navarro, Silvia de la Cruz-ares, Jose D. Torres-Pena, Magdalena P. Cardelo, Antonio P. Arenas-Larriva, Maria M. Malagon, Juan L. Romero-Cabrera, Jose M. Ordovas, Pablo Perez-Martinez, Javier Delgado-Lista, Elena M. Yubero-Serrano, Jose Lopez-Miranda
Summary: Increasing plant protein intake can promote the remission of type 2 diabetes in coronary heart disease patients, especially in the first and second year of follow-up, according to the CORDIOPREV study.
EUROPEAN JOURNAL OF NUTRITION
(2023)
Review
Nutrition & Dietetics
Jose D. Torres-Pena, Antonio P. Arenas-de Larriva, Juan F. Alcala-Diaz, Jose Lopez-Miranda, Javier Delgado-Lista
Summary: Non-alcoholic fatty liver disease (NAFLD) is the leading cause of chronic liver disease, and it is associated with obesity, metabolic syndrome, dyslipidemia, and diabetes. NAFLD is a global public health concern, affecting individuals of all ages, and its prevalence is expected to increase due to its connection with obesity. Genetic and lifestyle factors may modulate NAFLD and partly explain its relationship with cardiovascular disease (CVD). Currently, there is no specific drug for the treatment of NAFLD, and management relies on lifestyle modifications and a healthy diet.
Article
Endocrinology & Metabolism
Sumsen Thapa, Bharath S. Selvaraj, Paige N. Davis, Bryan Smith, Amy H. Givan, Jose A. Perez-Rivera, Pamela K. Woodard, Jon D. Klingensmith, Maria Fernandez-del-Valle
Summary: This study analyzed the relationships between cardiac adipose tissue (CAT), physical activity (PA) and fitness (PFit) in women with obesity, and explored the effects of different exercise modalities. It found that high-intensity aerobic exercise had a significant impact on reducing CAT volume, and all types of PA had a positive influence on body fat content. Furthermore, three weeks of high-intensity circuit training resulted in positive changes in body composition and fitness in women with obesity.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Medicine, General & Internal
Alberto Esteban-Fernandez, Rocio Villar-Taibo, Mirian Alejo, David Arroyo, Juan Luis Bonilla Palomas, Montserrat Cachero, Clara Joaquin, Manuel Mendez Bailon, Jose Angel Perez-Rivera, Juan Carlos Romero-Vigara, Gema Somoza
Summary: Heart failure is becoming more prevalent due to factors such as the aging population, development of new drugs, and healthcare processes. Malnutrition, often associated with frailty or other comorbidities, has been identified as a poor prognostic factor in these patients, highlighting the importance of early diagnosis and treatment. This paper reviews key aspects of the pathophysiology, detection, and management of malnutrition in heart failure patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Lara Aguilar-Iglesias, Ana Merino-Merino, Ester Sanchez-Corral, Maria-Jesus Garcia-Sanchez, Isabel Santos-Sanchez, Jesus Dominguez-Calvo, Ruth Saez-Maleta, Jose-Angel Perez-Rivera
Summary: The study aimed to investigate the differences in clinical baseline variables and geriatric scales between frail and non-frail patients admitted for acute heart failure. The results showed that 33.7% of acute heart failure patients were defined as frail, and they were older, had worse quality of life, higher comorbidity, and more dependence. However, despite these adverse characteristics, the treatment plans during admission and at hospital discharge were similar. Therefore, we believe that a geriatric assessment should be performed during the admission of acute heart failure patients to improve care and attention.
Article
Multidisciplinary Sciences
Christoph Hoechsmann, Shengping Yang, Jose M. Ordovas, James L. Dorling, Catherine M. Champagne, John W. Apolzan, Frank L. Greenway, Michelle I. Cardel, Gary D. Foster, Corby K. Martin
Summary: Weight loss differences between isocaloric high-carbohydrate and high-fat diets are generally small, but individual weight loss varies within diet groups. Genotype patterns may modify diet effects on weight loss.
NATURE COMMUNICATIONS
(2023)
