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Cardiolipin Disorder

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https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#1
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...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28050066/antiphospholipid-syndrome-a-diagnostic-challenge
#2
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
#3
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
#4
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
#5
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 (BTHS), which shows disparities in clinical presentation. In order to uncover biochemical modifiers that exacerbate CL deficiency, we carried out a Synthetic Genetic Array (SGA) screen to identify synthetic lethal interactions with the yeast CL synthase mutant crd1Δ...
December 9, 2016: 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
#6
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
#7
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...
November 26, 2016: 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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27268057/mechanism-for-remodeling-of-the-acyl-chain-composition-of-cardiolipin-catalyzed-by-saccharomyces-cerevisiae-tafazzin
#13
Masato Abe, Yui Hasegawa, Masahide Oku, Yoshiki Sawada, Eriko Tanaka, Yasuyoshi Sakai, Hideto Miyoshi
Remodeling of the acyl chains of cardiolipin (CL) is responsible for final molecular composition of mature CL after de novo CL synthesis in mitochondria. Yeast Saccharomyces cerevisiae undergoes tafazzin-mediated CL remodeling, in which tafazzin serves as a transacylase from phospholipids to monolyso-CL (MLCL). In light of the diversity of the acyl compositions of mature CL between different organisms, the mechanism underlying tafazzin-mediated transacylation remains to be elucidated. We investigated the mechanism responsible for transacylation using purified S...
July 22, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27208127/cardiolipins-act-as-a-selective-barrier-to-toll-like-receptor-4-activation-in-the-intestine
#14
Stephen R Coats, Ahmed Hashim, Nikolay A Paramonov, Thao T To, Michael A Curtis, Richard P Darveau
UNLABELLED: Intestinal homeostasis mechanisms must protect the host intestinal tissue from endogenous lipopolysaccharides (LPSs) produced by the intestinal microbiota. In this report, we demonstrate that murine intestinal fecal lipids effectively block Toll-like receptor 4 (TLR4) responses to naturally occurring Bacteroidetes sp. LPS. Cardiolipin (CL) represents a significant proportion of the total intestinal and fecal lipids and, furthermore, potently antagonizes TLR4 activation by reducing LPS binding at the lipopolysaccharide binding protein (LBP), CD14, and MD-2 steps of the TLR4 signaling pathway...
July 15, 2016: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/27149490/plasmapheresis-is-associated-with-better-renal-outcomes-in-lupus-nephritis-patients-with-thrombotic-microangiopathy-a-case-series-study
#15
Qiu-Yu Li, Feng Yu, Fu-De Zhou, Ming-Hui Zhao
The aim of this study was to evaluate the efficacy of plasmapheresis in patients with lupus nephritis-combined thrombotic microangiopathy (TMA) in a Chinese cohort.Clinical and therapeutic data of patients with lupus nephritis-combined TMA were collected retrospectively. A comparison between those with and without plasmapheresis was performed.Seventy patients with renal biopsy-proven TMA in lupus nephritis were treated with conventional combined corticosteroid and immunosuppressive agents as induction therapy, 9 of the 70 patients received additional plasmapheresis...
May 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27015085/metabolomics-reveals-new-mechanisms-for-pathogenesis-in-barth-syndrome-and-introduces-novel-roles-for-cardiolipin-in-cellular-function
#16
Yana Sandlers, Kelly Mercier, Wimal Pathmasiri, Jim Carlson, Susan McRitchie, Susan Sumner, Hilary J Vernon
Barth Syndrome is the only known Mendelian disorder of cardiolipin remodeling, with characteristic clinical features of cardiomyopathy, skeletal myopathy, and neutropenia. While the primary biochemical defects of reduced mature cardiolipin and increased monolysocardiolipin are well-described, much of the downstream biochemical dysregulation has not been uncovered, and biomarkers are limited. In order to further expand upon the knowledge of the biochemical abnormalities in Barth Syndrome, we analyzed metabolite profiles in plasma from a cohort of individuals with Barth Syndrome compared to age-matched controls via 1H nuclear magnetic resonance spectroscopy and liquid chromatography-mass spectrometry...
2016: PloS One
https://www.readbyqxmd.com/read/26845103/new-targets-for-monitoring-and-therapy-in-barth-syndrome
#17
W Reid Thompson, Brittany DeCroes, Rebecca McClellan, Jessica Rubens, Frédéric M Vaz, Kara Kristaponis, Dimitrios Avramopoulos, Hilary J Vernon
PURPOSE: Barth syndrome (BTHS), an X-linked disorder caused by defects in TAZ, is the only known single-gene disorder of cardiolipin remodeling. We hypothesized that through analysis of affected individuals, we would gain a better understanding of the range of clinical features and identify targets for monitoring and therapy. METHODS: We conducted a multidisciplinary investigation involving 42 patients with BTHS, including echocardiograms, muscle strength testing, functional exercise capacity testing, physical activity assessments, cardiolipin analysis, 3-methylglutaconic acid analysis, and review of genotype data...
October 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/26724946/atypical-clinical-presentations-of-taz-mutations-an-underdiagnosed-cause-of-growth-retardation
#18
Charlotte Thiels, Martin Fleger, Martina Huemer, Richard J Rodenburg, Frederic M Vaz, Riekelt H Houtkooper, Tobias B Haack, Holger Prokisch, René G Feichtinger, Thomas Lücke, Johannes A Mayr, Saskia B Wortmann
: Barth syndrome is known as a highly recognizable X-linked disorder typically presenting with the three hallmarks: (left ventricular non-compaction) cardiomyopathy, neutropenia, and 3-methylglutaconic aciduria. Furthermore, growth retardation, mild skeletal myopathy, and specific facial features as well as mitochondrial dysfunction in muscle are frequently seen. Underlying mutations are found in TAZ and lead to defective cardiolipin remodeling.Here, we report atypical clinical manifestations of TAZ mutations in two male patients initially presenting with growth retardation and very mild skeletal myopathy...
January 3, 2016: JIMD Reports
https://www.readbyqxmd.com/read/26497108/a-meta-analysis-of-serum-and-cerebrospinal-fluid-autoantibodies-in-neuropsychiatric-systemic-lupus-erythematosus
#19
REVIEW
Roger C Ho, C Thiaghu, Huiyi Ong, Yanxia Lu, Cyrus S Ho, Wilson W Tam, Melvyn W Zhang
Neuropsychiatric systemic lupus erythematosus (NPSLE) is one of the most devastating presentations of SLE and comprises of psychiatric, central and peripheral neurological signs and symptoms. Previous studies suggest the possible associations between various autoantibodies (Abs) and NPSLE. The magnitudes of such association varied between studies. We performed a meta-analysis to pool data on serum and cerebrospinal fluid (CSF) levels and positivity of Abs in blood and cerebrospinal fluid in patients with NPSLE and SLE...
February 2016: Autoimmunity Reviews
https://www.readbyqxmd.com/read/26486830/anti-vdrl-antibodies-by-elisa-in-cerebrospinal-fluid-and-its-value-in-the-differential-diagnosis-of-abnormalities-of-the-cerebrospinal-fluid
#20
J Montalban, R A Asherson, J H Missine, M Vatanasuk, M Tintore, A Codina
Enzyme-linked immunoabsorbent assay (ELISA) techniques for the detection of antibodies to the Venereal Disease Research Laboratories (VDRL) antigen as well as for the estimation of antibodies to cardiolipin (aCL) in cerebrospinal fluid (CSF) were performed in several groups of patients, including those with definite paretic neurosyphilis (DPNS, 10 patients), probable paretic neurosyphilis (PPNS, 19 patients), systemic lupus erythematosus (SLE, 71 patients), and miscellaneous neurologic disorders (30 patients), and normal subjects (11 patients)...
1992: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
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