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Mitochondrial myopathy

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https://www.readbyqxmd.com/read/28183315/pyruvate-kinase-m2-and-the-mitochondrial-atpase-inhibitory-factor-1-provide-novel-biomarkers-of-dermatomyositis-a-metabolic-link-to-oncogenesis
#1
Fulvio Santacatterina, María Sánchez-Aragó, Marc Catalán-García, Glòria Garrabou, Cristina Nuñez de Arenas, Josep M Grau, Francesc Cardellach, José M Cuezva
BACKGROUND: Metabolic alterations play a role in the development of inflammatory myopathies (IMs). Herein, we have investigated through a multiplex assay whether proteins of energy metabolism could provide biomarkers of IMs. METHODS: A cohort of thirty-two muscle biopsies and forty plasma samples comprising polymyositis (PM), dermatomyositis (DM) and sporadic inclusion body myositis (sIBM) and control donors was interrogated with monoclonal antibodies against proteins of energy metabolism using reverse phase protein microarrays (RPPA)...
February 10, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28181352/benign-mitochondrial-myopathy-with-exercise-intolerance-in-a-large-multigeneration-family-due-to-a-homoplasmic-m-3250t-c-mutation-in-mttl1
#2
N Darin, C Hedberg-Oldfors, A-K Kroksmark, A-R Moslemi, G Kollberg, A Oldfors
BACKGROUND AND PURPOSE: Most mitochondrial disorders with onset in early childhood are progressive and involve multiple organs. The m.3250T>C mutation in MTTL1 has previously been described in a few individuals with a possibly riboflavin-responsive myopathy and an association with sudden infant death syndrome was suspected. We describe a large family with this mutation and evaluate the effect of riboflavin treatment. METHODS: Medical data were collected with the help of a standardized data collection form...
February 9, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28179228/dietary-nitrate-does-not-reduce-oxygen-cost-of-exercise-or-improve-muscle-mitochondrial-function-in-mitochondrial-myopathy-patients
#3
Miranda Nabben, Joep P J Schmitz, Jolita Ciapaite, Carlijn M P Le Clercq, Natal A van Riel, Harm R Haak, Klaas Nicolay, Irenaeus F de Coo, Hubert J M Smeets, Stephan F Praet, Luc J C van Loon, Jeanine J Prompers
Muscle weakness and exercise intolerance negatively affect the quality of life of mitochondrial myopathy patients. Short-term dietary nitrate supplementation has been shown to improve exercise performance and reduce oxygen cost of exercise in healthy humans and trained athletes. We investigated if 1 week of dietary inorganic nitrate supplementation decreases the oxygen cost of exercise and improves mitochondrial function in mitochondrial myopathy patients. Ten mitochondrial myopathy patients (40 ± 5 years, maximal whole-body oxygen uptake = 21...
February 8, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/28155230/further-delineation-of-a-rare-recessive-encephalomyopathy-linked-to-mutations-in-gfer-thanks-to-data-sharing-of-whole-exome-sequencing-data
#4
S Nambot, D Gavrilov, J Thevenon, A L Bruel, M Bainbridge, M Rio, C Goizet, A Rötig, J Jaeken, N Niu, F Xia, A Vital, N Houcinat, F Mochel, P Kuentz, D Lehalle, Y Duffourd, J B Rivière, C Thauvin-Robinet, A L Beaudet, L Faivre
Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community...
February 2, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28139706/identification-of-mirna-lncrna-and-mrna-associated-cerna-networks-and-potential-biomarker-for-melas-with-mitochondrial-dna-a3243g-mutation
#5
Wei Wang, Qianqian Zhuang, Kunqian Ji, Bing Wen, Pengfei Lin, Yuying Zhao, Wei Li, Chuanzhu Yan
Researchers in the field of mitochondrial biology are increasingly unveiling of the complex mechanisms between mitochondrial dysfunction and noncoding RNAs (ncRNAs). However, roles of ncRNAs underlying mitochondrial myopathy remain unexplored. The aim of this study was to elucidate the regulating networks of dysregulated ncRNAs in Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) with mitochondrial DNA (mtDNA) A3243G mutation, which might make contributions to the unveiling of the complex mechanisms underlying mitochondrial myopathy and, possibly, new tools applicable to clinical practice...
January 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28106831/ablation-of-protein-kinase-ck2%C3%AE-in-skeletal-muscle-fibers-interferes-with-their-oxidative-capacity
#6
Nane Eiber, Luca Simeone, Said Hashemolhosseini
The tetrameric protein kinase CK2 was identified playing a role at neuromuscular junctions by studying CK2β-deficient muscle fibers in mice, and in cultured immortalized C2C12 muscle cells after individual knockdown of CK2α and CK2β subunits. In muscle cells, CK2 activity appeared to be at least required for regular aggregation of nicotinic acetylcholine receptors, which serves as a hallmark for the presence of a postsynaptic apparatus. Here, we set out to determine whether any other feature accompanies CK2β-deficient muscle fibers...
January 19, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28089741/inflammatory-myopathy-in-a-patient-with-aicardi-gouti%C3%A3-res-syndrome
#7
Birutė Tumienė, Norine Voisin, Eglė Preikšaitienė, Donatas Petroška, Jurgita Grikinienė, Rūta Samaitienė, Algirdas Utkus, Alexandre Reymond, Vaidutis Kučinskas
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder belonging to the recently characterized group of type I interferonopathies. The most consistently affected tissues in AGS are the central nervous system and skin, but various organ systems and tissues have been reported to be affected, pointing to the systemic nature of the disease. Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene. The histologically proven inflammatory myopathy in our patient expands the range of clinical features of AGS...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28086790/rna-sequencing-for-global-gene-expression-associated-with-muscle-growth-in-a-single-male-modern-broiler-line-compared-to-a-foundational-barred-plymouth-rock-chicken-line
#8
Byung-Whi Kong, Nicholas Hudson, Dongwon Seo, Seok Lee, Bhuwan Khatri, Kentu Lassiter, Devin Cook, Alissa Piekarski, Sami Dridi, Nicholas Anthony, Walter Bottje
BACKGROUND: Modern broiler chickens exhibit very rapid growth and high feed efficiency compared to unselected chicken breeds. The improved production efficiency in modern broiler chickens was achieved by the intensive genetic selection for meat production. This study was designed to investigate the genetic alterations accumulated in modern broiler breeder lines during selective breeding conducted over several decades. METHODS: To identify genes important in determining muscle growth and feed efficiency in broilers, RNA sequencing (RNAseq) was conducted with breast muscle in modern pedigree male (PeM) broilers (n = 6 per group), and with an unselected foundation broiler line (Barred Plymouth Rock; BPR)...
January 13, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28077841/pars2-and-nars2-mutations-in-infantile-onset-neurodegenerative-disorder
#9
Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Keitaro Yamada, Tohru Okanishi, Nina Ekhilevitch, Hanna Mandel, Ayelet Eran, Miyuki Toyono, Yukio Sawaishi, Hirotaka Motoi, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family. Two pairs of compound heterozygous mutations, c.[151C>T];[1184T>G] and c.[707T>G];[594+1G>A], and a homozygous mutation, c.[500A>G];[500A>G], in a gene encoding asparaginyl-tRNA synthetase (NARS2) were also identified in the other three families...
January 12, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28070494/pure-myopathy-with-enlarged-mitochondria-associated-to-a-new-mutation-in-mtnd2-gene
#10
Alice Zanolini, Ana Potic, Franco Carrara, Eleonora Lamantea, Daria Diodato, Flavia Blasevich, Silvia Marchet, Marina Mora, Francesco Pallotti, Lucia Morandi, Massimo Zeviani, Costanza Lamperti
To date, only few mutations in the mitochondrial DNA (mtDNA)-encoded ND2 subunit of Complex I have been reported, usually presenting a severe phenotype characterized by early onset encephalomyopathy and early death. In this report, we describe a new mutation in the MTND2 gene in a 21-year-old man with a mild myopathic phenotype characterized by exercise intolerance and increased plasma lactate at rest. Electromyography and brain NMR were normal, and no cardiac involvement was present. Muscle biopsy showed a massive presence of ragged red - COX-positive fibres, with enlarged mitochondria containing osmiophilic inclusions...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28069597/chronic-binge-alcohol-induced-dysregulation-of-mitochondrial-related-genes-in-skeletal-muscle-of-simian-immunodeficiency-virus-infected-rhesus-macaques-at-end-stage-disease
#11
Anthony A Duplanty, Liz Simon, Patricia E Molina
AIMS: Alcohol use disorders are more prevalent in HIV patients than the general population. Both chronic alcohol consumption and HIV infection have been linked to mitochondrial dysregulation; and this is considered an important mechanism in the pathogenesis of muscle myopathy. This study investigated if chronic binge alcohol (CBA) administration impairs the expression of genes involved in mitochondrial homeostasis in SIV-infected macaques. METHODS: Male rhesus macaques were administered daily CBA (to achieve peak blood alcohol concentrations of 50-60 mM within 2 h after start of infusion) or sucrose (SUC) intragastrically 3 months prior to intravenous SIVmac251 inoculation and continued until macaques met criteria for end-stage disease...
January 8, 2017: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/28064324/mitochondrial-iron-sulfur-cluster-biogenesis-from-molecular-understanding-to-clinical-disease
#12
Majid Alfadhel, Marwan Nashabat, Qais Abu Ali, Khalid Hundallah
Iron_sulfur clusters (ISCs) are known to play a major role in various protein functions. Located in the mitochondria, cytosol, endoplasmic reticulum and nucleus, they contribute to various core cellular functions. Until recently, only a few human diseases related to mitochondrial ISC biogenesis defects have been described. Such diseases include Friedreich ataxia, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect, hereditary myopathy with lactic acidosis and mitochondrial muscle myopathy, lipoic acid biosynthesis defects, multiple mitochondrial dysfunctions syndromes and non ketotic hyperglycinemia due to glutaredoxin 5 gene defect...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28050007/adult-onset-mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-melas-like-encephalopathy-diagnosed-based-on-the-complete-sequencing-of-mitochondrial-dna-extracted-from-biopsied-muscle-without-any-myopathic-changes
#13
Masako Mukai, Eiichiro Nagata, Atsushi Mizuma, Mitsuhiko Yamano, Keizo Sugaya, Ichizo Nishino, Yu-Ichi Goto, Shunya Takizawa
The clinical features of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) are not uniform. We herein report a male patient with unusual MELAS-like encephalopathy who had been experiencing isolated recurrent stroke-like episodes since he was 33 years old without any particular family history. Despite an extensive investigation, he had no other signs suggestive of MELAS. Although the muscle pathology showed a normal appearance, a mitochondrial genome sequence analysis of the biopsied muscle revealed a heteroplasmic m...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28029692/isoflavin-beta-modifies-muscle-oxidative-stress-and-prevents-a-thyrotoxicosis-induced-loss-of-muscle-mass-in-rats
#14
Poliana C Marinello, Sara S Bernardes, Flávia A Guarnier, Thamara N X da Silva, Fernando H Borges, Natália M D Lopes, Andréa N C Simão, André Armani, Rubens Cecchini, Alessandra L Cecchini
: Introduction We sought to verify whether Isoflavin-beta (Iso-β), a mixture of isoflavones with antioxidant properties could prevent thyrotoxicosis-induced loss of muscle mass and the participation of oxidative stress (OS) in the mechanisms of this prevention. METHODS: Two experimental periods of thyrotoxicosis induction were used in Wistar rats: 3 and 5 days to assess Iso-β effects before and after thyrotoxicosis-induced muscle wasting. After euthanasia, peritoneal fat and gastrocnemius muscle were collected, weighed, and muscle OS was assessed...
December 28, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/28024849/diminished-force-production-and-mitochondrial-respiratory-deficits-are-strain-dependent-myopathies-of-subacute-limb-ischemia
#15
Cameron A Schmidt, Terence E Ryan, Chien-Te Lin, Melissa M R Inigo, Tom D Green, Jeffrey J Brault, Espen E Spangenburg, Joseph M McClung
OBJECTIVE: Reduced skeletal muscle mitochondrial function might be a contributing mechanism to the myopathy and activity based limitations that typically plague patients with peripheral arterial disease (PAD). We hypothesized that mitochondrial dysfunction, myofiber atrophy, and muscle contractile deficits are inherently determined by the genetic background of regenerating ischemic mouse skeletal muscle, similar to how patient genetics affect the distribution of disease severity with clinical PAD...
December 23, 2016: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28024841/a-novel-ile1455thr-variant-in-the-skeletal-muscle-sodium-channel-alpha-subunit-in-a-patient-with-a-severe-adult-onset-proximal-myopathy-with-electrical-myotonia-and-a-patient-with-mild-paramyotonia-phenotype
#16
Marcin Bednarz, Bas C Stunnenberg, Benno Kusters, Erik-Jan Kamsteeg, Christiaan G Saris, James Groome, Vern Winston, Giovanni Meola, Karin Jurkat-Rott, Nicol C Voermans
In sodium channelopathies, a severe fixed myopathy caused by a dominant mutation is rare. We describe two unrelated patients with a novel variant, p.Ile1455Thr, with phenotypes of paramyotonia in one case and fixed proximal myopathy with latent myotonia in another. In-vitro whole cell patch-clamp studies show that the mutation slows inactivation and accelerates recovery, in line with other paramyotonia variants with destabilized fast inactivation as pathomechanism. Additionally, p.IleI1455 causes a loss-of-function by reduced membrane insertion, right-shift of activation, and slowed kinetics...
October 19, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28007899/use-of-antisense-oligonucleotides-to-correct-the-splicing-error-in-iscu-myopathy-patient-cell-lines
#17
Gregory P Holmes-Hampton, Daniel R Crooks, Ronald G Haller, Shuling Guo, Susan M Freier, Brett P Monia, Tracey A Rouault
ISCU myopathy is an inherited disease that primarily affects individuals of northern Swedish descent who share a single point mutation in the fourth intron of the ISCU gene. The current study shows correction of specific phenotypes associated with disease following treatment with an antisense oligonucleotide (ASO) targeted to the site of the mutation. We have shown that ASO treatment diminished aberrant splicing and increased ISCU protein levels in both patient fibroblasts and patient myotubes in a concentration dependent fashion...
October 7, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27993886/acquired-dysfibrinogenemia-caused-by-autoantibody-inhibiting-fibrin-polymerization-in-a-patient-with-melas-syndrome-and-bleeding-tendency
#18
Nuri Lee, Ji-Eun Kim, Hyun Ju Yoo, JaYoon Gu, Hyori Kim, Junho Chung, Youngil Koh, Hyun Kyung Kim
We present a case of acquired dysfibrinogenemia caused by an autoantibody that inhibited fibrin polymerization in a patient previously diagnosed with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes). The patient showed prolonged PT, aPTT, and thrombin time. There was no factor deficiency but fibrinogen antigen and activity were decreased. ELISA for detection of fibrinogen antibodies were performed and IgG purified from the patient's plasma bound to fibrinogen more strongly than did control IgG, indicating the presence of a fibrinogen-specific antibody...
December 2016: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/27974182/retraction-notice-to-activation-of-the-ppar-pgc-1%C3%AE-pathway-prevents-a-bioenergetic-deficit-and-effectively-improves-a-mitochondrial-myopathy-phenotype
#19
Tina Wenz, Francisca Diaz, Bruce M Spiegelman, Carlos T Moraes
No abstract text is available yet for this article.
13, 2016: Cell Metabolism
https://www.readbyqxmd.com/read/27966441/a-novel-mutation-in-mitochondrial-dna-in-a-patient-with-diabetes-deafness-and-proteinuria
#20
A Y Adema, M C H Janssen, J W van der Heijden
Maternally inherited deafness and diabetes (MIDD) is characterised by a defect in insulin secretion and bilateral hearing impairment. The m.3243A>G mutation is the most reported in mitochondrial DNA (mtDNA) causing MIDD, although other, rare, mtDNA point mutations have also been mentioned. We report on a 28-year-old Caucasian woman with a history of diabetes, kidney disease, deafness, diarrhoea, myopathy and fatigue. The diagnosis of mitochondrial disease was made in this patient, which resulted from a novel 09155A>G mutation in the mtDNA...
December 2016: Netherlands Journal of Medicine
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