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dilated cardiomyopathy metabolism

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https://www.readbyqxmd.com/read/30302293/primary-carnitine-deficiency-a-rare-reversible-metabolic-cardiomyopathy
#1
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
https://www.readbyqxmd.com/read/30288656/intercalated-discs-cellular-adhesion-and-signaling-in-heart-health-and-diseases
#2
REVIEW
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
https://www.readbyqxmd.com/read/30281092/cmah-dystrophin-deficient-mdx-mice-display-an-accelerated-cardiac-phenotype-that-is-improved-following-peptide-pmo-exon-skipping-treatment
#3
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
https://www.readbyqxmd.com/read/30260248/mechanisms-of-toxic-cardiomyopathy
#4
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
https://www.readbyqxmd.com/read/30171861/the-septic-heart-current-understanding-of-molecular-mechanisms-and-clinical-implications
#5
REVIEW
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
https://www.readbyqxmd.com/read/30116443/acute-hepatic-failure-and-epididymitis-in-a-hispanic-patient-with-active-systemic-lupus-erythematosus
#6
Beau M Bailey, Kenneth S Ramos, Alice Johnson, Charlene Mitchell
Systemic lupus erythematosus (SLE) is an autoimmune disease known to affect a variety of organ systems. Patients with SLE are more prone to developing common infections that can mimic the complications of SLE. As such, it is essential to differentiate complications of SLE from infection to ensure appropriate management and to improve morbidity and mortality of this patient population. Here we present a 24-year-old, Hispanic male, with SLE complicated by dialysis-dependent end-stage renal disease and dilated cardiomyopathy...
September 2018: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29931052/heart-specific-pgc-1%C3%AE-deletion-identifies-metabolome-of-cardiac-restricted-metabolic-heart-failure
#7
Olli Kärkkäinen, Tomi Tuomainen, Maija Mutikainen, Marko Lehtonen, Jorge L Ruas, Kati Hanhineva, Pasi Tavi
Aims: Heart failure (HF) is associated with drastic changes in metabolism leading to a cardiac energy deficiency well as maladaptive changes in multiple other tissues. It is still unclear which of these changes originates from cardiomyocyte metabolic remodeling or whether they are induced secondarily by systemic factors. Our aim here was to induce cardiac restricted metabolic changes mimicking those seen in HF and to characterize the associated metabolite changes in the heart, circulation and peripheral tissues...
June 20, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29921039/identification-of-new-biophysical-markers-for-pathological-ventricular-remodelling-in-tachycardia-induced-dilated-cardiomyopathy
#8
Aleyda Benitez-Amaro, Valerie Samouillan, Esther Jorge, Jany Dandurand, Laura Nasarre, David de Gonzalo-Calvo, Olga Bornachea, Gerard Amoros-Figueras, Colette Lacabanne, David Vilades, Ruben Leta, Francesc Carreras, Alberto Gallardo, Enrique Lerma, Juan Cinca, Jose M Guerra, Vicenta Llorente-Cortés
Our aim was to identify biophysical biomarkers of ventricular remodelling in tachycardia-induced dilated cardiomyopathy (DCM). Our study includes healthy controls (N = 7) and DCM pigs (N = 10). Molecular analysis showed global myocardial metabolic abnormalities, some of them related to myocardial hibernation in failing hearts, supporting the translationality of our model to study cardiac remodelling in dilated cardiomyopathy. Histological analysis showed unorganized and agglomerated collagen accumulation in the dilated ventricles and a higher percentage of fibrosis in the right (RV) than in the left (LV) ventricle (P = ...
September 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29882869/mitochondrial-fatty-acid-oxidation-disorders-associated-with-short-chain-enoyl-coa-hydratase-echs1-deficiency
#9
REVIEW
Alice J Sharpe, Matthew McKenzie
Mitochondrial fatty acid &beta;-oxidation (FAO) is the primary pathway for fatty acid metabolism in humans, performing a key role in liver, heart and skeletal muscle energy homeostasis. FAO is particularly important during times of fasting when glucose supply is limited, providing energy for many organs and tissues, including the heart, liver and brain. Deficiencies in FAO can cause life-threatening metabolic disorders in early childhood that present with liver dysfunction, hypoglycemia, dilated hypertrophic cardiomyopathy and Reye-like Syndrome...
May 23, 2018: Cells
https://www.readbyqxmd.com/read/29872591/a-case-report-of-dilated-biventricular-heart-failure-from-hyperthyroidism-a-rare-presentation
#10
Rizwan Ali, Arooj Tahir, Kanna V Posina
Hyperthyroidism is a common metabolic disorder with many cardiovascular manifestations. In rare cases, untreated hyperthyroidism can lead to thyrotoxic cardiomyopathy with severe left ventricular (LV) dysfunction. This case report aims to discuss the pathogenesis of heart failure in hyperthyroidism and the available treatment options. A 51-year-old male with a past history of untreated hyperthyroidism presented to our hospital for the evaluation of shortness of breath and dysphagia. Workup revealed atrial flutter and severe biventricular dilated cardiomyopathy...
April 2, 2018: Curēus
https://www.readbyqxmd.com/read/29866775/risk-stratification-of-genetic-dilated-cardiomyopathies-associated-with-neuromuscular-disorders-role-of-cardiac-imaging
#11
REVIEW
Pieter van der Bijl, Victoria Delgado, Marianne Bootsma, Jeroen J Bax
The etiology of dilated cardiomyopathy (DCM) can be grouped as either genetic or nongenetic. More than 50 pathogenic genes have been described, with sarcomeric and lamin A/C mutations being the most common. Mutation carriers for genetic DCM are often asymptomatic until cardiac disease manifests with heart failure, arrhythmias, or sudden cardiac death. Preventive strategies are promising but can only be applied and tested adequately if genetic DCM can be diagnosed at an early stage. Early diagnosis of mutation carriers that may develop overt DCM requires advanced imaging techniques that can detect subtle structural and functional abnormalities...
June 5, 2018: Circulation
https://www.readbyqxmd.com/read/29864925/knockdown-of-lrp6-activates-drp1-to-inhibit-survival-of-cardiomyocytes-during-glucose-deprivation
#12
Zhidan Chen, Yang Li, Guoliang Jiang, Chunjie Yang, Ying Wang, Xiang Wang, Bo Fang, Guoping Zhang, Yongxin Sun, Juying Qian, Hui Gong, Yunzeng Zou
Lipoprotein receptor-related protein 6 (LRP6) binds to Wnt ligands to transduce signal by stabilization of β-catenin, which has been involved in the regulation of embryonic development and metabolism et al. Here, we observed LRP6 decreased in human hearts with dilated cardiomyopathy (DCM), and it also decreased in cultured cardiomyocytes under glucose- deprivation (GD). Knockdown of LRP6 greatly inhibited cell viability in cardiomyocytes under GD, but it didn't induce the effect in cardiomyocytes at baseline...
July 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29849091/the-13-c-hyperpolarized-pyruvate-generated-by-parahydrogen-detects-the-response-of-the-heart-to-altered-metabolism-in-real-time
#13
Eleonora Cavallari, Carla Carrera, Matteo Sorge, Gisèle Bonne, Antoine Muchir, Silvio Aime, Francesca Reineri
Many imaging methods have been proposed to act as surrogate markers of organ damage, yet for many candidates the essential biomarkers characteristics of the injured organ have not yet been described. Hyperpolarized [1-13 C]pyruvate allows real time monitoring of metabolism in vivo. ParaHydrogen Induced Polarization (PHIP) is a portable, cost effective technique able to generate 13 C MR hyperpolarized molecules within seconds. The introduction of the Side Arm Hydrogenation (SAH) strategy offered a way to widen the field of PHIP generated systems and to make this approach competitive with the currently applied dissolution-DNP (Dynamic Nuclear Polarization) method...
May 30, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#14
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F Casanueva, David Araújo-Vilar
Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported...
June 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29772707/pimt-ncoa6ip-deletion-in-the-mouse-heart-causes-delayed-cardiomyopathy-attributable-to-perturbation-in-energy-metabolism
#15
Yuzhi Jia, Ning Liu, Navin Viswakarma, Ruya Sun, Mathew J Schipma, Meng Shang, Edward B Thorp, Yashpal S Kanwar, Bayar Thimmapaya, Janardan K Reddy
PIMT/NCOA6IP, a transcriptional coactivator PRIP/NCOA6 binding protein, enhances nuclear receptor transcriptional activity. Germline disruption of PIMT results in early embryonic lethality due to impairment of development around blastocyst and uterine implantation stages. We now generated mice with Cre-mediated cardiac-specific deletion of PIMT (csPIMT-/- ) in adult mice. These mice manifest enlargement of heart, with nearly 100% mortality by 7.5 months of age due to dilated cardiomyopathy. Significant reductions in the expression of genes (i) pertaining to mitochondrial respiratory chain complexes I to IV; (ii) calcium cycling cardiac muscle contraction ( Atp2a1 , Atp2a2 , Ryr2 ); and (iii) nuclear receptor PPAR- regulated genes involved in glucose and fatty acid energy metabolism were found in csPIMT-/- mouse heart...
May 16, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29754768/mutations-in-ppcs-encoding-phosphopantothenoylcysteine-synthetase-cause-autosomal-recessive-dilated-cardiomyopathy
#16
Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode-Shakked, Dina Marek-Yagel, Mathias Grigat, Thomas Schwarzmayr, Riccardo Berutti, Bader Alhaddad, Bart Kanon, Nicola A Grzeschik, Jürgen G Okun, Zeev Perles, Yishay Salem, Ortal Barel, Amir Vardi, Marina Rubinshtein, Tal Tirosh, Gal Dubnov-Raz, Ana C Messias, Caterina Terrile, Iris Barshack, Alex Volkov, Camilla Avivi, Eran Eyal, Elisa Mastantuono, Muhamad Kumbar, Shachar Abudi, Matthias Braunisch, Tim M Strom, Thomas Meitinger, Georg F Hoffmann, Holger Prokisch, Tobias B Haack, Bianca J J M Brundel, Dorothea Haas, Ody C M Sibon, Yair Anikster
Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five consecutive enzymatic steps. Phosphopantothenoylcysteine synthetase (PPCS) catalyzes the second step of the pathway during which phosphopantothenate reacts with ATP and cysteine to form phosphopantothenoylcysteine. Inborn errors of CoA biosynthesis have been implicated in neurodegeneration with brain iron accumulation (NBIA), a group of rare neurological disorders characterized by accumulation of iron in the basal ganglia and progressive neurodegeneration...
June 7, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29752948/functional-and-transcriptomic-insights-into-pathogenesis-of-r9c-phospholamban-mutation-using-human-induced-pluripotent-stem-cell-derived-cardiomyocytes
#17
Delaine K Ceholski, Irene C Turnbull, Chi-Wing Kong, Simon Koplev, Joshua Mayourian, Przemek A Gorski, Francesca Stillitano, Angelos A Skodras, Mathieu Nonnenmacher, Ninette Cohen, Johan L M Björkegren, Daniel R Stroik, Razvan L Cornea, David D Thomas, Ronald A Li, Kevin D Costa, Roger J Hajjar
Dilated cardiomyopathy (DCM) can be caused by mutations in the cardiac protein phospholamban (PLN). We used CRISPR/Cas9 to insert the R9C PLN mutation at its endogenous locus into a human induced pluripotent stem cell (hiPSC) line from an individual with no cardiovascular disease. R9C PLN hiPSC-CMs display a blunted β-agonist response and defective calcium handling. In 3D human engineered cardiac tissues (hECTs), a blunted lusitropic response to β-adrenergic stimulation was observed with R9C PLN. hiPSC-CMs harboring the R9C PLN mutation showed activation of a hypertrophic phenotype, as evidenced by expression of hypertrophic markers and increased cell size and capacitance of cardiomyocytes...
June 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29709707/consequences-of-mutations-and-inborn-errors-of-selenoprotein-biosynthesis-and-functions
#18
REVIEW
Noelia Fradejas-Villar
In its 200 years of history, selenium has been defined first as a toxic element and finally as a micronutrient. Selenium is incorporated into selenoproteins as selenocysteine (Sec), the 21st proteinogenic amino acid codified by a stop codon. Specific biosynthetic factors recode UGA stop codon as Sec. The significance of selenoproteins in human health is manifested through the identification of patients with inborn errors in selenoproteins or their biosynthetic factors. Selenoprotein N-related myopathy was the first disease identified due to mutations in a selenoprotein gene...
November 1, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29695963/the-effects-of-ppar-stimulation-on-cardiac-metabolic-pathways-in-barth-syndrome-mice
#19
Caitlin Schafer, Vicky Moore, Nupur Dasgupta, Sabzali Javadov, Jeanne F James, Alexander I Glukhov, Arnold W Strauss, Zaza Khuchua
Aim: Tafazzin knockdown (TazKD) in mice is widely used to create an experimental model of Barth syndrome (BTHS) that exhibits dilated cardiomyopathy and impaired exercise capacity. Peroxisome proliferator-activated receptors (PPARs) are a group of nuclear receptor proteins that play essential roles as transcription factors in the regulation of carbohydrate, lipid, and protein metabolism. We hypothesized that the activation of PPAR signaling with PPAR agonist bezafibrate (BF) may ameliorate impaired cardiac and skeletal muscle function in TazKD mice...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29691457/metabolic-and-cardiac-adaptation-to-chronic-pharmacologic-blockade-of-facilitative-glucose-transport-in-murine-dilated-cardiomyopathy-and-myocardial-ischemia
#20
Monique R Heitmeier, Maria A Payne, Carla Weinheimer, Attila Kovacs, Richard C Hresko, Patrick Y Jay, Paul W Hruz
GLUT transgenic and knockout mice have provided valuable insight into the role of facilitative glucose transporters (GLUTs) in cardiovascular and metabolic disease, but compensatory physiological changes can hinder interpretation of these models. To determine whether adaptations occur in response to GLUT inhibition in the failing adult heart, we chronically treated TG9 mice, a transgenic model of dilated cardiomyopathy and heart failure, with the GLUT inhibitor ritonavir. Glucose tolerance was significantly improved with chronic treatment and correlated with decreased adipose tissue retinol binding protein 4 (RBP4) and resistin...
April 24, 2018: Scientific Reports
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