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Cardiolipin Disorder

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https://www.readbyqxmd.com/read/28501666/an-unexpectedly-high-rate-of-thrombophilia-disorders-in-patients-with-superficial-vein-thrombosis-of-the-lower-extremities
#1
Marcone Lima Sobreira, Silvia Regina Rogatto, Rodrigo Mattos Dos Santos, Izolete Thomazini Santos, Iracema Carvalho Ferrari, Winston Bonetti Yoshida
BACKGROUND: Superficial vein thrombosis is a common venous condition. Recent studies have shown that SVT is associated with high frequency of thromboembolic complications: from 22 to 37 % for deep venous thrombosis and up to 33% for pulmonary embolism. OBJECTIVES: To assess the prevalence of major hereditary and acquired thrombophilic factors in patients with SVT. PATIENTS AND METHODS: 66 patients presenting with primary ST underwent evaluation for thrombophilia: molecular testing for the factor V Leiden and factor II G20210A (prothrombin) mutations, protein C, protein S, antithrombin deficiency, presence of lupus anticoagulant, as well as anti-cardiolipin antibody titers...
May 10, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28279226/the-ppar-pan-agonist-bezafibrate-ameliorates-cardiomyopathy-in-a-mouse-model-of-barth-syndrome
#2
Yan Huang, Corey Powers, Victoria Moore, Caitlin Schafer, Mindong Ren, Colin K L Phoon, Jeanne F James, Alexander V Glukhov, Sabzali Javadov, Frédéric M Vaz, John L Jefferies, Arnold W Strauss, Zaza Khuchua
BACKGROUND: The PGC-1α/PPAR axis has been proposed as a potential therapeutic target for several metabolic disorders. The aim was to evaluate the efficacy of the pan-PPAR agonist, bezafibrate, in tafazzin knockdown mice (TazKD), a mouse model of Barth syndrome that exhibits age-dependent dilated cardiomyopathy with left ventricular (LV) dysfunction. RESULTS: The effect of bezafibrate on cardiac function was evaluated by echocardiography in TazKD mice with or without beta-adrenergic stress...
March 9, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28258649/the-cardiac-manifestations-of-inherited-metabolic-diseases-in-children
#3
REVIEW
David F A Lloyd, Roshni Vara, Sujeev Mathur
Inborn errors of metabolism (IEMs) are responsible for around 5% of all cases of cardiomyopathy (CM) and 15% of non-idiopathic cases. Storage disorders such as Pompe disease (glycogen storage disease type II) typically cause hypertrophic cardiomyopathy, whereas the accumulation of toxic metabolites, as seen in the organic acidurias, is associated with dilated cardiomyopathy (DCM). Mixed pathology is also possible, particularly in late presentations. IEMs such as Barth syndrome, a disorder of cardiolipin stability usually associated with DCM, have been associated with rarer types of CM such as endocardial fibroelastosis (EFE) and left ventricular non-compaction...
March 4, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28238458/increased-levels-of-anti-phosphatidylcholine-and-anti-phosphatidylethanolamine-antibodies-in-pediatric-patients-with-cerebral-infarction
#4
Seigo Korematsu, Hiroshi Yamada, Hiroaki Miyahara, Kenji Ihara
Cerebral infarction in children is rare and often occurs secondary to moyamoya disease, hereditary coagulopathies, vasculitis, antiphospholipid antibody syndrome, heart disease, mitochondrial disease. However, in some cases, the causes of cerebral infarction is unknown. In this study, we detected increased levels of serum anti-phosphatidylcholine and anti-phosphatidylethanolamine IgG antibodies in three pediatric patients with cerebral infarction whose primary disorders are unknown by routine examination. For the five disease control patients of cerebral infarction due to other primary disorders, there was no such increase in these antibodies levels...
June 2017: Brain & Development
https://www.readbyqxmd.com/read/28221789/raman-spectroscopy-reveals-selective-interactions-of-cytochrome-c-with-cardiolipin-that-correlate-with-membrane-permeability
#5
Jay P Kitt, David A Bryce, Shelley D Minteer, Joel M Harris
Permeabilization of the outer mitochondrial membrane is an integral step in apoptosis. The resulting release of pro-apoptotic signaling proteins leads to cell destruction through activation of the cysteine-aspartic protease (caspase) cascade. However, the mechanism of outer mitochondrial membrane (OMM) permeabilization remains unclear. It was recently shown that cytochrome c can induce pore formation in cardiolipin-containing phospholipid membranes, leading to large dextran and protein permeability. In this work, the interaction of cytochrome c with cardiolipin-containing phospholipid vesicles, serving as models of the OMM, is investigated to probe cytochrome c-induced permeability...
March 7, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28151504/-cardiac-abnormalities-in-patients-with-systemic-lupus-erythematosus-the-role-of-antiphospholipid-antibodies
#6
Manuel Monti, Francesco Borgognoni, Loredana Pastacci, Giovanni Maria Vincentelli
BACKGROUND: Systemic lupus erythematosus (SLE) is a chronic inflammatory disease that has protean manifestations and follows a relapsing and remitting course. More than 90% of cases of SLE occur in women, frequently starting at childbearing age. It is characterized by the presence of autoantibodies potentially directed toward every organ or apparatus. Cardiac alterations are frequent in patients affected by SLE and the simultaneous presence of antiphospholipid antibodies (aPL), able to cause arterial thrombosis in any vascular district, is considered a possible risk factor for cardiac damage in SLE patients...
December 2016: Giornale Italiano di Cardiologia
https://www.readbyqxmd.com/read/28130408/hormone-deprivation-alters-mitochondrial-function-and-lipid-profile-in-the-hippocampus
#7
Sandra Zárate, Mariana Astiz, Natalia Magnani, Mercedes Imsen, Florencia Merino, Silvia Álvarez, Analía Reinés, Adriana Seilicovich
Mitochondrial dysfunction is a common hallmark in aging. In the female, reproductive senescence is characterized by loss of ovarian hormones, many of whose neuroprotective effects converge upon mitochondria. The functional integrity of mitochondria is dependent on membrane fatty acid and phospholipid composition, which are also affected during aging. The effect of long-term ovarian hormone deprivation upon mitochondrial function and its putative association with changes in mitochondrial membrane lipid profile in the hippocampus, an area primarily affected during aging and highly responsive to ovarian hormones, is unknown...
April 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28123175/a-novel-mutation-in-taz-causes-mitochondrial-respiratory-chain-disorder-without-cardiomyopathy
#8
Nurun N Borna, Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Yoshimi Tokuzawa, Masakazu Kohda, Hiromi Nyuzuki, Yzumi Yamashita-Sugahara, Takashi Nasu, Atsuhito Takeda, Kei Murayama, Akira Ohtake, Yasushi Okazaki
Tafazzin, encoded by the TAZ gene, is a mitochondrial membrane-associated protein that remodels cardiolipin (CL), an important mitochondrial phospholipid. TAZ mutations are associated with Barth syndrome (BTHS). BTHS is an X-linked multisystemic disorder affecting usually male patients. Through sequence analysis of TAZ, we found one novel mutation c.39_60del p.(Pro14Alafs*19) by whole-exome sequencing and a reported missense mutation c.280C>T p.(Arg94Cys) by Sanger sequencing in two male patients (Pt1 and Pt2)...
April 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#9
Doriana Borgia, Adriana Malena, Marco Spinazzi, Maria Andrea Desbats, Leonardo Salviati, Aaron P Russell, Giovanni Miotto, Laura Tosatto, Elena Pegoraro, Gianni Sorarù, Maria Pennuto, Lodovica Vergani
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. Here we investigated pathological processes occurring in muscle biopsy specimens derived from SBMA patients and, as controls, age-matched healthy subjects and patients suffering from amyotrophic lateral sclerosis (ALS) and neurogenic atrophy. We detected atrophic fibers in the muscle of SBMA, ALS and neurogenic atrophy patients...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28050066/antiphospholipid-syndrome-a-diagnostic-challenge
#10
REVIEW
R S Mallhi, Neerja Kushwaha, T Chatterjee, J Philip
The antiphospholipid syndrome (APS) is an acquired autoimmune thrombophilic disorder that is characterized by thrombosis (venous, arterial and microvascular) and obstetric morbidity due to a diverse family of antibodies against phospholipid-binding proteins present in plasma. The term antiphospholipid antibody is actually a misnomer as the antibodies are not against the phospholipid per se, but target the plasma protein co-factors, which bind to anionic PLs. The exact etiology has not been elucidated and is multifactorial...
December 2016: Medical Journal, Armed Forces India
https://www.readbyqxmd.com/read/28044251/novel-diagnostic-and-therapeutic-frontiers-in-thrombotic-anti-phospholipid-syndrome
#11
REVIEW
Savino Sciascia, Massimo Radin, Mario Bazzan, Dario Roccatello
The anti-phospholipid syndrome (APS) is an autoimmune disorder characterized by vascular thrombosis and/or pregnancy morbidity, associated with a persistent positivity for anti-phospholipid antibodies (aPL). The current classification criteria for APS include three laboratory tests: lupus anti-coagulant (LA), anti-cardiolipin (aCL), and anti-β2 glycoprotein-I (β2GPI). To date, the therapeutic approach for thrombotic APS mainly centers on long-term anti-coagulation with a vitamin K antagonist (VKA). APS management may represent a challenge for the treating physicians...
February 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28039536/cardiolipin-in-central-nervous-system-physiology-and-pathology
#12
REVIEW
Caitlin B Pointer, Andis Klegeris
Cardiolipin, an anionic phospholipid found primarily in the inner mitochondrial membrane, has many well-defined roles within the peripheral tissues, including the maintenance of mitochondrial membrane fluidity and the regulation of mitochondrial functions. Within the central nervous system (CNS), cardiolipin is found within both neuronal and non-neuronal glial cells, where it regulates metabolic processes, supports mitochondrial functions, and promotes brain cell viability. Furthermore, cardiolipin has been shown to act as an elimination signal and participate in programmed cell death by apoptosis of both neurons and glia...
December 30, 2016: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/27941023/loss-of-cardiolipin-leads-to-perturbation-of-acetyl-coa-synthesis
#13
Vaishnavi Raja, Amit S Joshi, Guiling Li, Krishna Rao Maddipati, Miriam L Greenberg
Cardiolipin (CL), the signature phospholipid of mitochondrial membranes, plays an important role in mitochondrial processes and bioenergetics. CL is synthesized de novo and undergoes remodeling in the mitochondrial membranes. Perturbation of CL remodeling leads to the rare X-linked genetic disorder Barth syndrome, which shows disparities in clinical presentation. To uncover biochemical modifiers that exacerbate CL deficiency, we carried out a synthetic genetic array screen to identify synthetic lethal interactions with the yeast CL synthase mutant crd1Δ...
January 20, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27928778/previously-unreported-biallelic-mutation-in-dnajc19-are-sensorineural-hearing-loss-and-basal-ganglia-lesions-additional-features-of-dilated-cardiomyopathy-and-ataxia-dcma-syndrome
#14
Sema Kalkan Ucar, Johannes A Mayr, René G Feichtinger, Ebru Canda, Mahmut Çoker, Saskia B Wortmann
BACKGROUND: Dilated cardiomyopathy (DCM), non-progressive cerebellar ataxia (A), testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria are the hallmarks of DNAJC19 defect (or DCMA syndrome) due to biallelic mutations in DNAJC19. To date DCMA syndrome has been reported in 19 patients from Canada and in two Finnish siblings. The underlying pathomechanism is unknown; however, DNAJC19 is presumed to be involved in mitochondrial membrane related processes (e.g., protein import and cardiolipin remodeling)...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27899231/carvedilol-exacerbate-gentamicin-induced-kidney-mitochondrial-alterations-in-adult-rat
#15
Luís Félix, M M Oliveira, Romeu Videira, Elisabete Maciel, Nuno D Alves, Fernando M Nunes, Anabela Alves, José M Almeida, M Rosário M Domingues, Francisco P Peixoto
Gentamicin is an aminoglycoside antibiotic widely used to treat many types of bacterial infections. Although its properties, his clinical use is limited due to the occurrence of nephrotoxicity, which has been related to mitochondrial dysfunction. Carvedilol, an antihypertensive drug with strong antioxidant properties, has been tested in order to prevent gentamicin nephrotoxicity. This study aimed to test this hypothesis using a rat model of gentamicin-induced nephrotoxicity. Animals were treated subcutaneously with DMSO (control) (0...
February 2017: Experimental and Toxicologic Pathology: Official Journal of the Gesellschaft Für Toxikologische Pathologie
https://www.readbyqxmd.com/read/27603010/cld1-reverses-the-ubiquinone-insufficiency-of-mutant-cat5-coq7-in-a-saccharomyces-cerevisiae-model-system
#16
Adwitiya Kar, Haley Beam, Megan B Borror, Michael Luckow, Xiaoli Gao, Shane L Rea
Ubiquinone (Qn) functions as a mobile electron carrier in mitochondria. In humans, Q biosynthetic pathway mutations lead to Q10 deficiency, a life threatening disorder. We have used a Saccharomyces cerevisiae model of Q6 deficiency to screen for new modulators of ubiquinone biosynthesis. We generated several hypomorphic alleles of coq7/cat5 (clk-1 in Caenorhabditis elegans) encoding the penultimate enzyme in Q biosynthesis which converts 5-demethoxy Q6 (DMQ6) to 5-demethyl Q6, and screened for genes that, when overexpressed, suppressed their inability to grow on non-fermentable ethanol-implying recovery of lost mitochondrial function...
2016: PloS One
https://www.readbyqxmd.com/read/27539236/exploring-autoimmunity-in-a-cohort-of-children-with-genetically-confirmed-aicardi-gouti%C3%A3-res-syndrome
#17
Marco Cattalini, Jessica Galli, Laura Andreoli, Ivana Olivieri, Giada Ariaudo, Micaela Fredi, Simona Orcesi, Angela Tincani, Elisa Fazzi
PURPOSE: The purpose of this study was to explore the presence of autoimmune manifestations and characterize the autoantibody production in a cohort of patients with Aicardi-Goutières syndrome (AGS). METHODS: Seventeen patients with a genetically-confirmed diagnosis of AGS were recruited. At the time of enrollment, past medical and family history was reviewed, looking for possible signs or symptoms of autoimmune disorders. Blood samples were taken, for the detection of a panel of autoantibodies: anti-nuclear, anti-double-stranded-DNA, anti-nucleosome, anti-extractable nuclear antigens, anti-cardiolipin IgG/IgM, anti-β2glycoprotein I IgG/IgM, and anti-neutrophil cytoplasmic...
October 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27503942/cerebral-venous-thrombosis-associated-with-thyrotoxicosis-the-use-of-desmopressin-and-elevated-factor-viii-von-willebrand-factor
#18
Waqar Waheed, Salman Aljerdi, Barbara Decker, Mary Cushman, Robert W Hamill
Cerebral venous thrombosis (CVT) is an uncommon disorder associated with diverse processes. We report a patient who, while receiving desmopressin and contraceptive pills (OCP), developed straight sinus thrombosis. Clinical assessment and laboratory investigations revealed untreated hyperthyroidism and a hypercoagulable state, characterised by high levels of von Willebrand factor, factor VIII coagulant activity and IgM cardiolipin antibody. The clinical picture improved with anticoagulation, treatment of hyperthyroidism and discontinuation of OCP and desmopressin...
August 8, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27434059/deficiency-in-cardiolipin-reduces-doxorubicin-induced-oxidative-stress-and-mitochondrial-damage-in-human-b-lymphocytes
#19
Baikuntha Aryal, V Ashutosh Rao
Cardiolipin (CL) is an inner mitochondrial membrane phospholipid which plays an important role in mitochondrial function. Perturbation in CL biosynthesis alters mitochondrial bioenergetics causing a severe genetic disorder commonly known as Barth syndrome. Barth syndrome patients are known to have a reduced concentration and altered composition of CL. Cardiolipin is also known to have a high affinity for the chemotherapeutic agent doxorubicin (Dox), resulting in an extensive mitochondrial accumulation of the drug...
2016: PloS One
https://www.readbyqxmd.com/read/27358708/identification-of-a-novel-de-novo-mutation-of-the-taz-gene-in-a-korean-patient-with-barth-syndrome
#20
Tae Yeon Yoo, Mock Ryeon Kim, Jae Sung Son, Ran Lee, Sun Hwan Bae, Sochung Chung, Kyo Sun Kim, Moon-Woo Seong, Sung Sup Park
Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in the tafazzin (TAZ) gene located on chromosome Xq28, leading to cardiolipin deficiency. We report a 13-month-old boy with BTHS who had a novel de novo mutation in the TAZ gene. To the best of our knowledge, this is the first reported case of a BTHS patient with a de novo mutation in Korea...
June 2016: Journal of Cardiovascular Ultrasound
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