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Mitochondrial myopathy

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https://www.readbyqxmd.com/read/29780824/clinical-histological-and-immunohistochemical-findings-in-inclusion-body-myositis
#1
Leonardo Valente de Camargo, Mary Souza de Carvalho, Samuel Katsuyuki Shinjo, Acary Souza Bulle de Oliveira, Edmar Zanoteli
Sporadic inclusion body myositis (sIBM) is considered the most common acquired myopathy aged over 50 years. The disease is characterized by a particular process of muscle degeneration characterized by abnormal deposit of protein aggregates in association with inflammation. The aim of this study was to present clinical and muscle histopathological findings, including immunostaining for LC3B, p62, α -synuclein, and TDP-43, in 18 patients with sIBM. The disease predominated in males (61%) and European descendants, with onset of clinical manifestations around 59 years old...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29780003/a-disease-associated-aifm1-variant-induces-severe-myopathy-in-knockin-mice
#2
Lena Wischhof, Anna Gioran, Dagmar Sonntag-Bensch, Antonia Piazzesi, Miriam Stork, Pierluigi Nicotera, Daniele Bano
OBJECTIVE: Mutations in the AIFM1 gene have been identified in recessive X-linked mitochondrial diseases. Functional and molecular consequences of these pathogenic AIFM1 mutations have been poorly studied in vivo. METHODS/RESULTS: Here we provide evidence that the disease-associated apoptosis-inducing factor (AIF) deletion arginine 201 (R200 in rodents) causes pathology in knockin mice. Within a few months, posttranslational loss of the mutant AIF protein induces severe myopathy associated with a lower number of cytochrome c oxidase-positive muscle fibers...
May 8, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29767723/isca1-mutation-in-a-patient-with-infantile-onset-leukodystrophy-causes-defects-in-mitochondrial-4fe-4s-proteins
#3
Alessandra Torraco, Oliver Stehling, Claudia Stümpfig, Ralf Rösser, Domenico De Rasmo, Giuseppe Fiermonte, Daniela Verrigni, Teresa Rizza, Angelo Vozza, Michela Di Nottia, Daria Diodato, Diego Martinelli, Fiorella Piemonte, Carlo Dionisi-Vici, Enrico Bertini, Roland Lill, Rosalba Carrozzo
Multiple Mitochondrial Dysfunction Syndromes (MMDS) comprise a group of severe autosomal recessive diseases characterized by impaired respiration and lipoic acid metabolism, resulting in infantile-onset mitochondrial encephalopathy, non-ketotic hyperglycinemia, myopathy, lactic acidosis and early death. Four different MMDS have been analyzed in detail according to the genes involved in the disease, MMDS1 (NFU1), MMDS2 (BOLA3), MMDS3 (IBA57), and MMDS4 (ISCA2). MMDS5 has recently been described in a clinical case report of patients carrying a mutation in ISCA1, but with no further functional analysis...
May 14, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29718187/mutations-in-coa7-cause-spinocerebellar-ataxia-with-axonal-neuropathy
#4
Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashima
Several genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochrome c oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations in COA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT...
April 27, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29701772/inositol-trisphosphate-receptor-mediated-ca2-signalling-stimulates-mitochondrial-function-and-gene-expression-in-core-myopathy-patients
#5
Matteo Suman, Jenny A Sharpe, Robert B Bentham, Vassilios N Kotiadis, Michela Menegollo, Viviana Pignataro, Jordi Molgó, Francesco Muntoni, Michael R Duchen, Elena Pegoraro, Gyorgy Szabadkai
Core myopathies are a group of childhood muscle disorders caused by mutations of the ryanodine receptor (RyR1), the Ca2+ release channel of the sarcoplasmic reticulum. These mutations have previously been associated with elevated inositol trisphosphate receptor (IP3R) levels in skeletal muscle myotubes derived from patients. However, the functional relevance and the relationship of IP3R mediated Ca2+ signalling with the pathophysiology of the disease is unclear. It has also been suggested that mitochondrial dysfunction underlies the development of central and diffuse multi-mini-cores, devoid of mitochondrial activity, which is a key pathological consequence of RyR1 mutations...
April 25, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29694924/loss-of-tafazzin-results-in-decreased-myoblast-differentiation-in-c2c12-cells-a-myoblast-model-of-barth-syndrome-and-cardiolipin-deficiency
#6
Wenjia Lou, Christian A Reynolds, Yiran Li, Jenney Liu, Maik Hüttemann, Michael Schlame, David Stevenson, Douglas Strathdee, Miriam L Greenberg
Barth syndrome (BTHS) is an X-linked genetic disorder resulting from mutations in the tafazzin gene (TAZ), which encodes the transacylase that remodels the mitochondrial phospholipid cardiolipin (CL). While most BTHS patients exhibit pronounced skeletal myopathy, the mechanisms linking defective CL remodeling and skeletal myopathy have not been determined. In this study, we constructed a CRISPR-generated stable tafazzin knockout (TAZ-KO) C2C12 myoblast cell line. TAZ-KO cells exhibit mitochondrial deficits consistent with other models of BTHS, including accumulation of monolyso-CL (MLCL), decreased mitochondrial respiratory, and increased mitochondrial ROS production...
April 22, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29681093/low-level-expression-of-epg5-leads-to-an-attenuated-vici-syndrome-phenotype
#7
Megan A Waldrop, Felecia Gumienny, Daniel Boue, Emily de Los Reyes, Richard Shell, Robert B Weiss, Kevin M Flanigan
Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly. Most individuals are severely affected and have a markedly reduced life span. Here we describe an 8-year-old boy with a history of developmental delay, agenesis of the corpus callosum, failure to thrive, myopathy, and well-controlled epilepsy. He was initially diagnosed with a mitochondrial disorder, based in part upon nonspecific muscle biopsy findings, but mitochondrial DNA mutation analysis revealed no mutations...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29666206/taurine-supplementation-for-prevention-of-stroke-like-episodes-in-melas-a-multicentre-open-label-52-week-phase-iii-trial
#8
Yutaka Ohsawa, Hiroki Hagiwara, Shin-Ichiro Nishimatsu, Akihiro Hirakawa, Naomi Kamimura, Hideaki Ohtsubo, Yuta Fukai, Tatsufumi Murakami, Yasutoshi Koga, Yu-Ichi Goto, Shigeo Ohta, Yoshihide Sunada
OBJECTIVE: The aim of this study was to evaluate the efficacy and safety of high-dose taurine supplementation for prevention of stroke-like episodes of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), a rare genetic disorder caused by point mutations in the mitochondrial DNA that lead to a taurine modification defect at the first anticodon nucleotide of mitochondrial tRNALeu(UUR) , resulting in failure to decode codons accurately. METHODS: After the nationwide survey of MELAS, we conducted a multicentre, open-label, phase III trial in which 10 patients with recurrent stroke-like episodes received high-dose taurine (9 g or 12 g per day) for 52 weeks...
April 17, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29657030/rewiring-of-glutamine-metabolism-is-a-bioenergetic-adaptation-of-human-cells-with-mitochondrial-dna-mutations
#9
Qiuying Chen, Kathryne Kirk, Yevgeniya I Shurubor, Dazhi Zhao, Andrea J Arreguin, Ifrah Shahi, Federica Valsecchi, Guido Primiano, Elizabeth L Calder, Valerio Carelli, Travis T Denton, M Flint Beal, Steven S Gross, Giovanni Manfredi, Marilena D'Aurelio
Using molecular, biochemical, and untargeted stable isotope tracing approaches, we identify a previously unappreciated glutamine-derived α-ketoglutarate (αKG) energy-generating anaplerotic flux to be critical in mitochondrial DNA (mtDNA) mutant cells that harbor human disease-associated oxidative phosphorylation defects. Stimulating this flux with αKG supplementation enables the survival of diverse mtDNA mutant cells under otherwise lethal obligatory oxidative conditions. Strikingly, we demonstrate that when residual mitochondrial respiration in mtDNA mutant cells exceeds 45% of control levels, αKG oxidative flux prevails over reductive carboxylation...
April 9, 2018: Cell Metabolism
https://www.readbyqxmd.com/read/29645070/-isolated-girdle-weakness-expansion-of-the-phenotypic-spectrum-of-the-merrf-8344a-g-mutation-of-mitochondrial-dna
#10
A Erdocia-Goni, A Alonso-Jimenez, C Ramon-Carbajo, E Garcia-Arumi, P Casquero, E Gallardo, J Diaz-Manera
INTRODUCTION: The differential diagnosis of diseases that are accompanied by adult-onset girdle weakness is broad and includes motor neurone, neuromuscular junction or muscular diseases. The 8344A>G mutation of the MTTK gene of mitochondrial DNA usually presents with involvement of multiple organs associated (or not) with girdle weakness. To date no cases of isolated girdle weakness have been reported as the presenting symptom of this mutation. CASE REPORT: A 57-year-old male, with a four-year history of isolated clinical signs of progressive girdle weakness...
April 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29628597/anesthetic-management-in-pediatric-patient-for-percutaneous-endoscopic-gastrostomy-with-mitochondrial-myopathy-leigh-syndrome
#11
Ebru Tarikçi Kiliç, Nelgin Gerenli, Mehmet Salim Akdemir, Necmi Onur Tastan, Egemen Atag
Leigh syndrome (LS) is a rare disease mainly affecting the central nervous system due to the abnormalities of mitochondrial energy generation and seen in early childhood with progressive loss of movement, mental abilities, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Anesthesia and surgery exacerbate the risks of aspiration, wheezing, and breathing difficulties. Tracheal irritability can be stimulated with the efforts of intubation. We report the anesthetic management of a rare case of an 11-year-old boy with a severe form of LS for percutaneous endoscopic gastrostomy insertion...
January 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29610236/randomized-dose-escalation-trial-of-elamipretide-in-adults-with-primary-mitochondrial-myopathy
#12
(no author information available yet)
No abstract text is available yet for this article.
April 3, 2018: Neurology
https://www.readbyqxmd.com/read/29602790/retrospective-natural-history-of-thymidine-kinase-2-deficiency
#13
Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Patrick F Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga-Garrido, Jana Domínguez-Carral, Carlos Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua F Kriger, Robert Schoenaker, Bruce Levin, John L P Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano
BACKGROUND: Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of disease from infantile onset to adult onset manifesting primarily as myopathy. OBJECTIVE: To perform a retrospective natural history study of a large cohort of patients with TK2 deficiency. METHODS: The study was conducted by 42 investigators across 31 academic medical centres...
March 30, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29602309/regenerative-abilities-of-mesenchymal-stem-cells-through-mitochondrial-transfer
#14
REVIEW
Swati Paliwal, Rituparna Chaudhuri, Anurag Agrawal, Sujata Mohanty
The past decade has witnessed an upsurge in studies demonstrating mitochondrial transfer as one of the emerging mechanisms through which mesenchymal stem cells (MSCs) can regenerate and repair damaged cells or tissues. It has been found to play a critical role in healing several diseases related to brain injury, cardiac myopathies, muscle sepsis, lung disorders and acute respiratory disorders. Several studies have shown that various mechanisms are involved in mitochondrial transfer that includes tunnel tube formation, micro vesicle formation, gap junctions, cell fusion and others modes of transfer...
March 30, 2018: Journal of Biomedical Science
https://www.readbyqxmd.com/read/29584613/effect-of-l-carnitine-on-the-skeletal-muscle-contractility-in-simvastatin-induced-myopathy-in-rats
#15
Mohammad Ghalwash, Ahlam Elmasry, Nabil El-Adeeb
BACKGROUND: Statins therapy is effective in the prevention of cardiovascular events. However, its use is associated with skeletal muscle myopathy, which may be severe enough to discontinue statin therapy, thus exposing patients to more morbidity and mortality. This study was conducted to assess the effect of L-carnitine on the skeletal muscle contractility in a rat model of statin-induced myopathy and to clarify its possible mechanisms. METHODS: Twenty-one female Sprague Dawley rats were used throughout this study...
March 27, 2018: Journal of Basic and Clinical Physiology and Pharmacology
https://www.readbyqxmd.com/read/29570939/telbivudine-associated-mitochondrial-myopathy
#16
Su-Shen Lim, Hsien-Tzung Liao, Chang-Youh Tsai
A 62-year-old male had a history of hepatitis B virus infection with fulminant hepatitis status post liver transplant in 2 years ago presented to Rheumatology clinic with one-year history of progressive proximal muscle weakness of bilateral lower extremities. He had difficulty in climbing stairs or standing up from squatting and easily choking. His maintenance medications after liver transplant included tacrolimus and telbivudine for chronic hepatitis B viral infection1 . This article is protected by copyright...
March 23, 2018: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/29567350/progressive-fat-replacement-of-muscle-contributes-to-the-disease-mechanism-of-patients-with-single-large-scale-deletions-of-mitochondrial-dna
#17
Gitte Hedermann, Julia R Dahlqvist, Nicoline Løkken, Christoffer R Vissing, Kirsten Lykke Knak, Linda Kahr Andersen, Carsten Thomsen, John Vissing
Muscle dysfunction in mitochondrial myopathy is predominantly caused by insufficient generation of energy. We hypothesise that structural changes in muscles could also contribute to their pathophysiology. The aims of this study were to determine fat fractions and strength in selected muscles in patients with chronic progressive external ophthalmoplegia (CPEO), and compare progression of muscle fat fraction with age in individuals with CPEO vs. healthy controls and patients with the m.3243A>G mutation of mitochondrial DNA (mtDNA)...
February 21, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29530865/identification-of-structural-and-molecular-features-involved-in-the-transport-of-3-deoxy-nucleoside-analogs-by-human-equilibrative-nucleoside-transporter-3
#18
Md Fazlur Rahman, Radhika Raj, Rajgopal Govindarajan
Combination antiretroviral drug treatments depend on 3'-deoxy-nucleoside analogs such as 3'-azido-3'-deoxythymidine (AZT) and 2'3'-dideoxyinosine (DDI). Despite being effective in inhibiting human immunodeficiency virus replication, these drugs produce a range of toxicities, including myopathy, pancreatitis, neuropathy, and lactic acidosis, that are generally considered as sequelae to mitochondrial damage. Although cell surface-localized nucleoside transporters, such as human equilibrative nucleoside transporter 2 (hENT2) and human concentrative nucleoside transporter 1 (hCNT1), are known to increase the carrier-mediated uptake of 3'-deoxy-nucleoside analogs into cells, another ubiquitously expressed intracellular nucleoside transporter (namely, hENT3) has been implicated in the mitochondrial transport of 3'-deoxy-nucleoside analogs...
May 2018: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/29519717/mutation-analysis-of-chchd2-and-chchd10-in-italian-patients-with-mitochondrial-myopathy
#19
Elisa Rubino, Ming Zhang, Tiziana Mongini, Silvia Boschi, Liliana Vercelli, Alessandro Vacca, Flora Govone, Annalisa Gai, Maria Teresa Giordana, Mark Grinberg, Ekaterina Rogaeva, Innocenzo Rainero
Mutations in CHCHD2 and CHCHD10 were recently reported in a broad spectrum of neurodegenerative diseases, for example, Parkinson's disease, amyotrophic lateral sclerosis, frontotemporal dementia, or mitochondrial myopathy (MM). The aim of the study was to evaluate the prevalence of CHCHD2 and CHCHD10 mutations in Italian MM patients without mitochondrial DNA mutations. The coding regions of CHCHD2 and CHCHD10 were sequenced in 62 MM patients. None of the patients showed CHCHD2 mutations, whereas 1 sporadic MM patient carried a homozygous Pro96Thr substitution in CHCHD10...
June 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29517768/mitochondrial-oxodicarboxylate-carrier-deficiency-is-associated-with-mitochondrial-dna-depletion-and-spinal-muscular-atrophy-like-disease
#20
Veronika Boczonadi, Martin S King, Anthony C Smith, Monika Olahova, Boglarka Bansagi, Andreas Roos, Filmon Eyassu, Christoph Borchers, Venkateswaran Ramesh, Hanns Lochmüller, Tuomo Polvikoski, Roger G Whittaker, Angela Pyle, Helen Griffin, Robert W Taylor, Patrick F Chinnery, Alan J Robinson, Edmund R S Kunji, Rita Horvath
PurposeTo understand the role of the mitochondrial oxodicarboxylate carrier (SLC25A21) in the development of spinal muscular atrophy-like disease.MethodsWe identified a novel pathogenic variant in a patient by whole-exome sequencing. The pathogenicity of the mutation was studied by transport assays, computer modeling, followed by targeted metabolic testing and in vitro studies in human fibroblasts and neurons.ResultsThe patient carries a homozygous pathogenic variant c.695A>G; p.(Lys232Arg) in the SLC25A21 gene, encoding the mitochondrial oxodicarboxylate carrier, and developed spinal muscular atrophy and mitochondrial myopathy...
March 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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