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Mitochondrial myopathy

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https://www.readbyqxmd.com/read/28106831/ablation-of-protein-kinase-ck2%C3%AE-in-skeletal-muscle-fibers-interferes-with-their-oxidative-capacity
#1
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
#2
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...
January 9, 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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/27941998/voltage-dependent-anion-channel-1-vdac1-participates-the-apoptosis-of-the-mitochondrial-dysfunction-in-desminopathy
#16
Huanyin Li, Lan Zheng, Yanqing Mo, Qi Gong, Aihua Jiang, Jing Zhao
Desminopathies caused by the mutation in the gene coding for desmin are genetically protein aggregation myopathies. Mitochondrial dysfunction is one of pathological changes in the desminopathies at the earliest stage. The molecular mechanisms of mitochondria dysfunction in desminopathies remain exclusive. VDAC1 regulates mitochondrial uptake across the outer membrane and mitochondrial outer membrane permeabilization (MOMP). Relationships between desminopathies and Voltage-dependent anion channel 1 (VDAC1) remain unclear...
2016: PloS One
https://www.readbyqxmd.com/read/27936249/the-impact-of-exercise-on-statin-associated-skeletal-muscle-myopathy
#17
Hae R Chung, Mayand Vakil, Michael Munroe, Alay Parikh, Benjamin M Meador, Pei T Wu, Jin H Jeong, Jeffrey A Woods, Kenneth R Wilund, Marni D Boppart
HMG-CoA reductase inhibitors (statins) are the most effective pharmacological means of reducing cardiovascular disease risk. The most common side effect of statin use is skeletal muscle myopathy, which may be exacerbated by exercise. Hypercholesterolemia and training status are factors that are rarely considered in the progression of myopathy. The purpose of this study was to determine the extent to which acute and chronic exercise can influence statin-induced myopathy in hypercholesterolemic (ApoE-/-) mice...
2016: PloS One
https://www.readbyqxmd.com/read/27928383/late-onset-development-of-eyelid-ptosis-in-chronic-progressive-external-ophthalmoplegia-a-30-year-follow-up
#18
Jennifer Murdock, Preeti J Thyparampil, Michael T Yen
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial myopathy with slowly progressive, often symmetric blepharoptosis and limitation of ocular motility in all directions of gaze. The authors present an unusual case of CPEO that initially presented with the unique features of markedly asymmetric facial weakness and the lack of blepharoptosis. However, over the subsequent three decades, the patient developed progressive facial and eyelid dysfunction more consistent with a classical description of CPEO...
February 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27922496/metabolic-myopathies
#19
Mark A Tarnopolsky
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. RECENT FINDINGS: The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy; however, most cases present in childhood or in adulthood with exercise intolerance (often with rhabdomyolysis) and weakness...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922495/toxic-and-endocrine-myopathies
#20
Hans D Katzberg, Charles D Kassardjian
PURPOSE OF REVIEW: This article discusses the clinical features, pathophysiology, and management of toxic and endocrine myopathies. RECENT FINDINGS: Early detection and expeditious correction of metabolic disturbances in endocrinopathies such as Cushing syndrome, thyroid and parathyroid diseases, and acromegaly can minimize and prevent neurologic complications including myopathy. Recently proposed mechanisms of injury in patients with critical illness myopathy include inhibition of protein synthesis, mitochondrial dysfunction, disruption of the ubiquitin-proteasome system, oxidative stress, and disruption of intramuscular calcium homeostasis, which can cause a myosin-loss myopathy...
December 2016: Continuum: Lifelong Learning in Neurology
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