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Mitochondrial myopathy

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https://www.readbyqxmd.com/read/27928383/late-onset-development-of-eyelid-ptosis-in-chronic-progressive-external-ophthalmoplegia-a-30-year-follow-up
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#4
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27901256/the-newcastle-pediatric-mitochondrial-disease-scale-translation-and-cultural-adaptation-for-use-in-brazil
#5
Gabriela Palhares Campolina-Sampaio, Laura Maria de Lima Belizário Facury Lasmar, Beatriz Silva Vilela Ribeiro, Juliana Gurgel Giannetti
Objective: The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. Methods: The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups: myopathy (n = 4); Leigh syndrome (n = 8); and encephalomyopathy (n = 8). Scores were obtained for the various dimensions of the NPMDS, and comparisons were drawn between the groups. Results: There was a statistically significant difference between the myopathy group and the Leigh syndrome group (p = 0...
November 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27897416/curcumin-an-effective-adjunct-in-patients-with-statin-associated-muscle-symptoms
#6
REVIEW
Amirhossein Sahebkar, Nikou Saboni, Matteo Pirro, Maciej Banach
In spite of the unequivocal efficacy of statins in reducing primary and secondary cardiovascular events, the use of these drugs in a considerable number of patients is limited because of statin intolerance, mainly statin-associated muscle symptoms (SAMS). SAMS encompass a broad spectrum of clinical presentations, including mild muscular aching and other types of myalgias, myopathy with the significant elevation of creatine kinase, and the rare but life-threatening rhabdomyolysis. Among several pathophysiologic mechanisms of SAMS, mitochondrial dysfunction is thought to be one of the main one...
September 22, 2016: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/27891585/novel-mutations-in-kars-cause-hypertrophic-cardiomyopathy-and-combined-mitochondrial-respiratory-chain-defect
#7
Daniela Verrigni, Daria Diodato, Michela Di Nottia, Alessandra Torraco, Emanuele Bellacchio, Teresa Rizza, Giulia Tozzi, Margherita Verardo, Fiorella Piemonte, Giorgio Tasca, Adele D'Amico, Enrico Bertini, Rosalba Carrozzo
Mutations in KARS, which encodes for both mitochondrial and cytoplasmic lysyl-tRNA synthethase, have been so far associated with three different phenotypes: the recessive form of Charcot Mary-Tooth polyneuropathy, the autosomal recessive non-syndromic hearing loss and the last recently described condition related to congenital visual impairment and progressive microcephaly. Here we report the case of a 14-years-old-girl with severe cardiomyopathy associated to mild psychomotor delay and mild myopathy; moreover, a diffuse reduction of cytochrome C oxidase (COX, complex IV) and a combined enzymatic defect of complex I (CI) and IV (CIV) was evident in muscle biopsy...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27889897/growth-differentiation-factor-15-is-a-novel-diagnostic-biomarker-of-mitochondrial-diseases
#8
Xinbo Ji, Lizhen Zhao, Kunqian Ji, Yuying Zhao, Wei Li, Rui Zhang, Ying Hou, Jianqiang Lu, Chuanzhu Yan
The present study aimed to investigate whether serum growth differentiation factor 15 concentration is a valuable and reliable diagnostic biomarker of mitochondrial diseases. We examined consecutive patients with mitochondrial diseases, in comparison with patients with non-mitochondrial disease neuromuscular disorders and healthy controls. The serum concentrations of growth differentiation factor 15 were measured by ELISA, and compared with those of FGF21, lactate, and creatine kinase. We also evaluated the correlations between growth differentiation factor 15 concentrations and the Newcastle Mitochondrial Disease Adult Scale, numbers of ragged-red fibers, and COX-negative fibers in the biopsied muscles...
November 26, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27856367/dysphagia-is-prevalent-in-patients-with-cpeo-and-single-large-scale-deletions-in-mtdna
#9
Gitte Hedermann, Nicoline Løkken, Julia R Dahlqvist, John Vissing
BACKGROUND: The aim of this study was to assess the frequency of subjective and objective dysphagia in patients with chronic progressive external ophthalmoplegia (CPEO) due to single, large-scale deletions (LSDs) of mitochondrial DNA (mtDNA). METHODS: Sixteen patients with CPEO and single LSDs of mtDNA were included in the study and compared to a control group of 12 patients with the m.3243A>G mtDNA mutation. Patients had to drink 80ml of water at 4°C as fast as they could (cold-water test) and fill out a standardized questionnaire about dysphagia...
November 14, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27832997/effects-of-doxorubicin-on-cardiac-muscle-subsarcolemmal-and-intermyofibrillar-mitochondria
#10
Andreas N Kavazis, Aaron B Morton, Stephanie E Hall, Ashley J Smuder
Doxorubicin (DOX) is a highly effective chemotherapeutic used in the treatment of a broad spectrum of malignancies. However, clinical use of DOX is highly limited by cumulative and irreversible cardiomyopathy that occurs following DOX treatment. The pathogenesis of DOX-induced cardiac muscle dysfunction is complex. However, it has been proposed that the etiology of this myopathy is related to mitochondrial dysfunction, as a result of the dose-dependent increase in the mitochondrial accumulation of DOX. In this regard, cardiac muscle possesses two morphologically distinct populations of mitochondria...
November 8, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27818722/nrf2-is-an-attractive-therapeutic-target-for-retinal-diseases
#11
REVIEW
Yasuhiro Nakagami
Nuclear factor erythroid 2-related factor 2 (Nrf2) is a redox-sensitive transcription factor that binds to antioxidant response elements located in the promoter region of genes encoding many antioxidant enzymes and phase II detoxifying enzymes. Activation of Nrf2 functions is one of the critical defensive mechanisms against oxidative stress in many species. The retina is constantly exposed to reactive oxygen species, and oxidative stress is a major contributor to age-related macular diseases. Moreover, the resulting inflammation and neuronal degeneration are also related to other retinal diseases...
2016: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/27816931/underlying-role-of-mitochondrial-mutagenesis-in-the-pathogenesis-of-a-disease-and-current-approaches-for-translational-research
#12
Maria Paraskevaidi, Pierre L Martin-Hirsch, Maria Kyrgiou, Francis L Martin
Mitochondrial diseases have been extensively investigated over the last three decades, but many questions regarding their underlying aetiologies remain unanswered. Mitochondrial dysfunction is not only responsible for a range of neurological and myopathy diseases but also considered pivotal in a broader spectrum of common diseases such as epilepsy, autism and bipolar disorder. These disorders are a challenge to diagnose and treat, as their aetiology might be multifactorial. In this review, the focus is placed on potential mechanisms capable of introducing defects in mitochondria resulting in disease...
November 5, 2016: Mutagenesis
https://www.readbyqxmd.com/read/27816331/a-new-mutation-in-the-mitochondrial-trna-pro-gene-associated-with-early-onset-neuromuscular-phenotype-and-ragged-red-fibers
#13
Godelieve Morel, Sylvie Bannwarth, Annabelle Chaussenot, Aline Cano, Konstantina Fragaki, Samira Ait-El-Mkadem, Cecile Rouzier, Andre Maues De Paula, Brigitte Chabrol, Veronique Paquis-Flucklinger
An 11-year-old boy with psychomotor delay, exercise intolerance, ptosis and growth delay had a muscle biopsy showing typical mitochondrial alterations (60% of ragged-red fibers and 90% of cytochrome-c oxidase-deficient fibers). Next-generation sequencing revealed a novel heteroplasmic mutation (m.15958A>T) in the MTTP gene that encodes tRNA(Pro). The mutation was not present in the accessible non-muscle tissues of the patient's asymptomatic mother. Mutations in the rarely affected MTTP gene are responsible for different clinical presentations...
September 16, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27815113/rosuvastatin-safety-an-experimental-study-of-myotoxic-effects-and-mitochondrial-alterations-in-rats
#14
Samar O El-Ganainy, Ahmed El-Mallah, Dina Abdallah, Mahmoud M Khattab, Mahmoud M Mohy El-Din, Aiman S El-Khatib
Myopathy is the most commonly reported adverse effect of statins. All statins are associated with myopathy, though with different rates. Rosuvastatin is a potent statin reported to induce myopathy comparable to earlier statins. However, in clinical practice most patients could tolerate rosuvastatin over other statins. This study aimed to evaluate the myopathic pattern of rosuvastatin in rats using biochemical, functional and histopathological examinations. The possible deleterious effects of rosuvastatin on muscle mitochondria were also examined...
November 1, 2016: Toxicology Letters
https://www.readbyqxmd.com/read/27811495/use-of-methohexital-and-dexmedetomidine-for-maintenance-of-anesthesia-in-a-patient-with-mitochondrial-myopathy
#15
Elliott L Woodward, Zhiling Xiong
Provision of anesthesia for patients with mitochondrial disorders is associated with a unique set of challenges. These disorders are rare, which complicates efforts to develop high quality, evidence-based guidelines to inform the perioperative management of those who suffer from them. Accordingly, case reports remain an important source of information regarding their care. Here we present the case of a 27-year-old female patient with mitochondrial myopathy and a history suggestive of malignant hyperthermia susceptibility who received general anesthesia for 2 consecutive surgeries...
November 2, 2016: A & A Case Reports
https://www.readbyqxmd.com/read/27800280/in-regard-to-autism-in-the-son-of-a-woman-with-mitochondrial-myopathy-and-dysautonomia-a-case-report
#16
Keith Fluegge
No abstract text is available yet for this article.
May 2016: Innovations in Clinical Neuroscience
https://www.readbyqxmd.com/read/27794108/fgf21-is-a-biomarker-for-mitochondrial-translation-and-mtdna-maintenance-disorders
#17
Jenni M Lehtonen, Saara Forsström, Emanuela Bottani, Carlo Viscomi, Olivier R Baris, Helena Isoniemi, Krister Höckerstedt, Pia Österlund, Mikko Hurme, Juulia Jylhävä, Sirpa Leppä, Ritva Markkula, Tiina Heliö, Giuliana Mombelli, Johanna Uusimaa, Reijo Laaksonen, Hannu Laaksovirta, Mari Auranen, Massimo Zeviani, Jan Smeitink, Rudolf J Wiesner, Kazuto Nakada, Pirjo Isohanni, Anu Suomalainen
OBJECTIVE: To validate new mitochondrial myopathy serum biomarkers for diagnostic use. METHODS: We analyzed serum FGF21 (S-FGF21) and GDF15 from patients with (1) mitochondrial diseases and (2) nonmitochondrial disorders partially overlapping with mitochondrial disorder phenotypes. We (3) did a meta-analysis of S-FGF21 in mitochondrial disease and (4) analyzed S-Fgf21 and skeletal muscle Fgf21 expression in 6 mouse models with different muscle-manifesting mitochondrial dysfunctions...
October 28, 2016: Neurology
https://www.readbyqxmd.com/read/27759889/sarcopenia-age-atrophy-and-myopathy-mitochondrial-oxidative-enzyme-activities
#18
Alan Pestronk, Richard Keeling, Rati Choksi
OBJECTIVE: We studied mitochondrial impairment as a factor in the pathologic equivalent of sarcopenia, muscle fiber atrophy associated with increased age. METHODS: Mitochondrial oxidative enzyme activities and coenzyme Q10 levels were measured in frozen human proximal limb muscles with combined age and atrophy, age alone, atrophy alone, denervation, immune myopathies, and mitochondrial disorders with ophthalmoplegia. RESULTS: Sarcopenia (age and atrophy) had reduced mean activities of mitochondrial Complexes I, II, and II+III, with severe reduction of Complex I activity in 54% of patients...
October 19, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27729389/effects-of-ketosis-in-mitochondrial-myopathy-potential-benefits-of-a-mitotoxic-diet
#19
Robert Ds Pitceathly, Carlo Viscomi
No abstract text is available yet for this article.
November 2, 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27703432/linezolid-toxicity-and-mitochondrial-susceptibility-a-novel-neurological-complication-in-a-lebanese-patient
#20
Ossama K Abou Hassan, Mohamad Karnib, Riyad El-Khoury, Georges Nemer, Mamdouha Ahdab-Barmada, Pierre BouKhalil
The recent rise in the use of linezolid to treat a variety of resistant pathogens has uncovered many side effects. Some patients develop lactic acidosis, myelosuppression, optic or peripheral neuropathies, and myopathies. We evaluated an elderly patient who presented to the Emergency Room with linezolid toxicity and a novel neurologic complication characterized by bilateral globi pallidi necrosis. Mitochondrial ribosome inhibition was described to be the predisposing factor. The patient belongs to the mitochondrial J1 haplotype known to be associated with side effects of the drug...
2016: Frontiers in Pharmacology
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