Read by QxMD icon Read

dilated cardiomyopathy metabolism

Sirisha Marreddy Cheedipudi, Scot J Matkovich, Cristian Coarfa, Xin Hu, Matthew J Robertson, Mary E Sweet, Matthew Taylor, Luisa Mestroni, Joseph C Cleveland, James T Willerson, Priyatansh Gurha, Ali J Marian
RATIONALE: Lamin A/C (LMNA), a nuclear membrane protein, interacts with genome through lamin-associated domains (LADs) and regulates gene expression. Mutations in the LMNA gene cause a diverse array of diseases, including dilated cardiomyopathy (DCM). DCM is the leading cause of death in laminopathies. OBJECTIVE: To identify LADs and characterize their associations with CpG methylation and gene expression in human cardiac myocytes in DCM. METHODS AND RESULTS: LMNA chromatin immunoprecipitation-sequencing, reduced representative bisulfite sequencing, and RNA-sequencing were performed in 5 control and 5 LMNA-associated DCM hearts...
February 11, 2019: Circulation Research
Guangyong Huang, Jingwen Liu, Chuansheng Yang, Youzhang Xiang, Yuehai Wang, Jing Wang, Miaomiao Cao, Wenbo Yang
Dilated cardiomyopathy (DCM) is a common type of non‑ischemic cardiomyopathy, of which the underlying mechanisms have not yet been fully elucidated. Long noncoding RNAs (lncRNAs) have been reported to serve crucial physiological roles in various cardiac diseases. However, the genome‑wide expression profile of lncRNAs remains to be elucidated in DCM. In the present study, a case‑control study was performed to identify expression deviations in circulating lncRNAs between patients with DCM and controls by RNA sequencing...
February 5, 2019: Molecular Medicine Reports
Jin Zhou, Benjamin Ng, Nicole S J Ko, Lorna R Fiedler, Ester Khin, Andrea Lim, Norliza E Sahib, Yajun Wu, Sonia P Chothani, Sebastian Schafer, Boon-Huat Bay, Rohit A Sinha, Stuart A Cook, Paul M Yen
Titin-truncating variants (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM). TTNtv occur in ~1% of the general population and causes subclinical cardiac remodeling in asymptomatic carriers. In rat models with either proximal or distal TTNtv, we previously showed altered cardiac metabolism at baseline and impaired cardiac function in response to stress. However, the molecular mechanism(s) underlying these effects remains unknown. In the current study, we used rat models of TTNtv to investigate the effect of TTNtv on autophagy and mitochondrial function, which are essential for maintaining cellular metabolic homeostasis and cardiac function...
February 4, 2019: Human Molecular Genetics
Emily Hanson, Mark Sheldon, Brenda Pacheco, Mohammed Alkubeysi, Veena Raizada
Friedreich's ataxia (FRDA), which occurs in 1/50000 live births, is the most prevalent inherited neuromuscular disorder. Nearly all FRDA patients develop cardiomyopathy at some point in their lives. The clinical manifestations of FRDA include ataxia of the limbs and trunk, dysarthria, diabetes mellitus, and cardiac diseases. However, the broad clinical spectrum makes FRDA difficult to identify. The diagnosis of FRDA is based on the presence of suspicious clinical factors, the use of the Harding criteria and, more recently, the use of genetic testing for identifying the expansion of a triplet nucleotide sequence...
January 26, 2019: World Journal of Cardiology
Eunjin Cho, HyunJun Kang, Dae-Ki Kang, Youngsook Lee
Cardiomyopathy is a common myocardial disease that can lead to sudden death. However, molecular mechanisms underlying cardiomyopathy remains unclear. Jarid2 is necessary for embryonic heart development, but functions of Jarid2 after birth remains to be elucidated. Here, we report that myocardial-specific deletion of Jarid2 using αMHC::Cre mice ( Jarid2 αMHC ) causes dilated cardiomyopathy (DCM) and premature death between 6-9 months after birth. To determine functions of Jarid2 in the adult heart and DCM, we analyzed gene expression in the heart at postnatal day (p)10 (neonatal) and 7 months (DCM)...
January 30, 2019: Journal of Biological Chemistry
Julio C Mantilla-Hernández, Julián Amaya-Mujica
Hereditary hemochromatosis (HH) includes various disorders in iron metabolism producing iron deposits in several organs. HH is classified according to the HFE gene mutation. HH type I is characterized by HFE gene mutation, while types II, III and IV are due to other conditions. Juvenile hemochromatosis (JH) is related to hemojuvelin mutation, which is a regulatory peptide of the hepcidin protein, which regulates iron absorption. We report a case of JH and offer a concise review of the literature. A 14-year-old girl, with no secondary sexual characteristics, presented with abdominal pain, cough and dyspnoea...
January 2019: Revista Española de Patología
Helen E Collins, Betty M Pat, Luyun Zou, Silvio H Litovsky, Adam Raymond Wende, Martin E Young, John C Chatham
The ER/SR Ca2+ sensor, stromal interaction molecule 1 (STIM1), a key mediator of store-operated calcium entry, is expressed in cardiomyocytes and has been implicated in regulating multiple cardiac processes, including hypertrophic signaling. Interestingly, cardiomyocyte-restricted deletion of STIM1 (cr STIM1-KO) results in age-dependent ER stress, altered mitochondrial morphology, and dilated cardiomyopathy in mice. Here, we tested the hypothesis that STIM1 deficiency may also impact cardiac metabolism. Hearts isolated from 20-week old cr STIM1-KO mice exhibited a significant reduction in both oxidative and non-oxidative glucose utilization...
December 21, 2018: American Journal of Physiology. Heart and Circulatory Physiology
Feifei Guan, Xinlan Yang, Jing Li, Wei Dong, Xu Zhang, Ning Liu, Shan Gao, Jizheng Wang, Lianfeng Zhang, Dan Lu
Background Canonical studies indicate that cytochrome P450 2E1 ( CYP 2E1) plays a critical role in the metabolism of xenobiotics and ultimately participates in tissue damage. CYP 2E1 upregulates in the pathophysiological development of multiple diseases; however, the mechanism of CYP 2E1 upregulation, particularly in heart disease, remains elusive. Methods and Results We found that the level of CYP 2E1 increased in heart tissues from patients with hypertrophic cardiomyopathy; multiple mouse models of heart diseases, including dilated cardiomyopathy, hypertrophic cardiomyopathy, and myocardial ischemia; and HL -1 myocytes under stress...
January 8, 2019: Journal of the American Heart Association
André Luiz Dabarian, Charles Mady, João Marcos Barbosa-Ferreira, Barbara Maria Ianni, Viviane Tiemi Hotta, Felix J A Ramires, Heno Ferreira Lopes, Paula de Cássia Buck, Fernanda G Pessoa, Keila Cb Fonseca, Adriana Ramos Nogueira, Fabio Fernandes
Metabolic, inflammatory, and autonomic nervous system dysfunction are present in patients with heart failure. However, whether these changes are due to left ventricular dysfunction or heart failure etiology is unknown. We evaluated metabolism and inflammatory activity in patients with idiopathic dilated cardiomyopathy (IDC) and chagasic cardiomyopathy (CHG) and their correlation with the autonomic nervous system (ANS). Forty-six patients were divided into 3 groups: IDC, CHG, and control (CG). We evaluated adiponectin, leptin, insulin, interleukin-6, and tumor necrosis factor-alpha...
December 17, 2018: Canadian Journal of Physiology and Pharmacology
Joanna L Kaplan, Joshua A Stern, Andrea J Fascetti, Jennifer A Larsen, Hannah Skolnik, Gordon D Peddle, Richard D Kienle, Andrew Waxman, Michael Cocchiaro, Catherine T Gunther-Harrington, Tyler Klose, Kendra LaFauci, Bonnie Lefbom, Maggie Machen Lamy, Rebecca Malakoff, Satoko Nishimura, Maureen Oldach, Steven Rosenthal, Christopher Stauthammer, Lynne O'Sullivan, Lance C Visser, Regan William, Eric Ontiveros
INTRODUCTION: Golden retrievers are over-represented in cases of taurine-deficient dilated cardiomyopathy and recently a surge in cases has prompted further investigation. OBJECTIVE: To describe the clinical, dietary, and echocardiographic features in golden retrievers diagnosed with taurine deficiency and dilated cardiomyopathy, and to determine specific dietary associations. A second aim was to determine the whole blood taurine concentrations in a representative sample of healthy golden retrievers...
2018: PloS One
Nzali V Campbell, David A Weitzenkamp, Ian L Campbell, Ronald F Schmidt, Chindo Hicks, Michael J Morgan, David C Irwin, John J Tentler
BACKGROUND: Large-scale "omics" datasets have not been leveraged and integrated with functional analyses to discover potential drivers of cardiomyopathy. This study addresses the knowledge gap. METHODS: We coupled RNA sequence (RNA-Seq) variant detection and transcriptome profiling with pathway analysis to model drug refractory dilated cardiomyopathy (drDCM) using the BaseSpace sequencing hub and Ingenuity Pathway Analysis. We used RNA-Seq case-control datasets (n = 6 cases, n = 4 controls), exome sequence familial DCM datasets (n = 3 Italians, n = 5 Italians, n = 5 Chinese), and controls from the HapMap project (n = 5 Caucasians, and n = 5 Asians) for disease modeling and putative mutation discovery...
December 12, 2018: BMC Medical Genomics
Seitaro Nomura
Cardiomyopathy, a leading cause of death worldwide, is etiologically and phenotypically heterogeneous and is caused by a combination of genetic and non-genetic factors. Major genomic determinants of dilated cardiomyopathy (DCM) are titin truncating mutations and lamin A/C mutations. Patients with these two genotypes show critically different phenotypes, including penetrance, coexistence with a conduction system abnormality, cardiac prognosis, and treatment response. The transcriptomic and epigenomic characteristics of DCM include activation of the DNA damage response, metabolic reprogramming, and dedifferentiation...
December 4, 2018: Journal of Cardiology
Lichan Tao, Long Wang, Xiaoyu Yang, Xiaohong Jiang, Fei Hua
BACKGROUND AND AIMS: Obstructive sleep apnea syndrome is a chronic disease associated with intermittent hypoxia (IH) and is an important risk factor for cardiovascular disease. Glucagon-like peptide (GLP-1) is a naturally occurring incretin used as a promising therapeutic agent in the treatment of acute myocardial infarction, dilated cardiomyopathy, and advanced heart failure. However, whether GLP-1 can protect against IH-induced cardiac injury is still unclear. Accordingly, in this study, we evaluated the effects of recombinant human GLP-1 (rhGLP-1) on cardiac health in mice...
February 5, 2019: Molecular and Cellular Endocrinology
Eloisa Arbustini, Alessandro Di Toro, Lorenzo Giuliani, Valentina Favalli, Nupoor Narula, Maurizia Grasso
Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or disease-specific metabolic indicators. Cardiac and extra-cardiac traits, imaging tests, family studies, and genetic testing provide precise diagnoses. Cardiac phenotypes are mainly dilated and hypokinetic in dystrophinopathies, Emery-Dreifuss muscular dystrophies, and limb girdle muscular dystrophies; hypertrophic in Friedreich ataxia, mitochondrial diseases, glycogen storage diseases, and fatty acid oxidation disorders; and restrictive in myofibrillar myopathies...
November 13, 2018: Journal of the American College of Cardiology
Catalina Vasilescu, Tiina H Ojala, Virginia Brilhante, Simo Ojanen, Helena M Hinterding, Eino Palin, Tero-Pekka Alastalo, Juha Koskenvuo, Anita Hiippala, Eero Jokinen, Timo Jahnukainen, Jouko Lohi, Jaana Pihkala, Tiina A Tyni, Christopher J Carroll, Anu Suomalainen
BACKGROUND: Childhood cardiomyopathies are progressive and often lethal disorders, forming the most common cause of heart failure in children. Despite severe outcomes, their genetic background is still poorly characterized. OBJECTIVES: The purpose of this study was to characterize the genetics of severe childhood cardiomyopathies in a countrywide cohort. METHODS: The authors collected a countrywide cohort, KidCMP, of 66 severe childhood cardiomyopathies from the sole center in Finland performing cardiac transplantation...
November 6, 2018: Journal of the American College of Cardiology
Stephen Tomlinson, John Atherton, Sandhir Prasad
A 24-year-old female with a diagnosis of primary carnitine deficiency, a rare inherited metabolic disorder predominantly described in the paediatric literature that causes cardiomyopathy, presented for evaluation after three months of nonadherence with prescribed carnitine therapy. Initial echocardiography demonstrated severe left ventricular dilation (104 ml/m2 ) (normal < 76 ml/m2 ) with moderate systolic dysfunction (ejection fraction 40%) and severe right ventricular dilation with mild systolic dysfunction...
2018: Case Reports in Cardiology
Guangze Zhao, Ye Qiu, Huifang M Zhang, Decheng Yang
Intercalated discs (ICDs) are highly orchestrated structures that connect neighboring cardiomyocytes in the heart. Three major complexes are distinguished in ICD: desmosome, adherens junction (AJ), and gap junction (GJ). Desmosomes are major cell adhesion junctions that anchor cell membrane to the intermediate filament network; AJs connect the actin cytoskeleton of adjacent cells; and gap junctions metabolically and electrically connect the cytoplasm of adjacent cardiomyocytes. All these complexes work as a single unit, the so-called area composita, interdependently rather than individually...
October 5, 2018: Heart Failure Reviews
Corinne A Betts, Graham McClorey, Richard Healicon, Suzan M Hammond, Raquel Manzano, Sofia Muses, Vicky Ball, Caroline Godfrey, Thomas M Merritt, Tirsa Westering, Liz O'Donovan, Kim E Wells, Michael J Gait, Dominic J Wells, Damian Tyler, Matthew J Wood
Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications. Cardiac involvement is characterized by progressive dilated cardiomyopathy, decreased fractional shortening and metabolic dysfunction involving reduced metabolism of fatty acids-the major cardiac metabolic substrate. Several mouse models have been developed to study molecular and pathological consequences of dystrophin deficiency, but do not recapitulate all aspects of human disease pathology and exhibit a mild cardiac phenotype...
October 2, 2018: Human Molecular Genetics
Philippe Hantson
BACKGROUND: Dilated cardiomyopathy is a frequent disease responsible for 40-50% of cases of heart failure. Idiopathic cardiomyopathy is a primary disorder often related to familial/genetic predisposition. Before the diagnosis of idiopathic cardiomyopathy is made, clinicians must not only rule out viral and immune causes, but also toxic causes such as drugs, environmental agents, illicit substances and natural toxins. OBJECTIVE: The objective of this review is to present recent data on the mechanisms underlying toxic cardiomyopathy...
September 27, 2018: Clinical Toxicology
Lukas Martin, Matthias Derwall, Sura Al Zoubi, Elisabeth Zechendorf, Daniel A Reuter, Chris Thiemermann, Tobias Schuerholz
Septic cardiomyopathy is a key feature of sepsis-associated cardiovascular failure. Despite the lack of consistent diagnostic criteria, patients typically exhibit ventricular dilatation, reduced ventricular contractility, and/or both right and left ventricular dysfunction with a reduced response to volume infusion. Although there is solid evidence that the presence of septic cardiomyopathy is a relevant contributor to organ dysfunction and an important factor in the already complicated therapeutic management of patients with sepsis, there are still several questions to be asked: Which factors/mechanisms cause a cardiac dysfunction associated with sepsis? How do we diagnose septic cardiomyopathy? How do we treat septic cardiomyopathy? How does septic cardiomyopathy influence the long-term outcome of the patient? Each of these questions is interrelated, and the answers require a profound understanding of the underlying pathophysiology that involves a complex mix of systemic factors and molecular, metabolic, and structural changes of the cardiomyocyte...
August 29, 2018: Chest
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"