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Mitochondrial myopathy

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https://www.readbyqxmd.com/read/29138463/talen-mediated-shift-of-mitochondrial-dna-heteroplasmy-in-melas-ipscs-with-m-13513g-a-mutation
#1
Naoki Yahata, Yuji Matsumoto, Minoru Omi, Naoki Yamamoto, Ryuji Hata
Induced pluripotent stem cells (iPSCs) are suitable for studying mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations. Here, we generated iPSCs from a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with the m.13513G>A mutation. The patient's dermal fibroblasts were reprogrammed, and we established two iPSC clones with and without mutant mtDNA. Furthermore, we tried to decrease mutant mtDNA level in iPSCs using transcription activator-like effector nucleases (TALENs)...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29127187/apobec2-deficiency-causes-mitochondrial-defects-and-mitophagy-in-skeletal-muscle
#2
Yusuke Sato, Hideaki Ohtsubo, Naohiro Nihei, Takane Kaneko, Yoriko Sato, Shin-Ichi Adachi, Shinji Kondo, Mako Nakamura, Wataru Mizunoya, Hiroshi Iida, Ryuichi Tatsumi, Cristina Rada, Fumiaki Yoshizawa
Apobec2 is a member of the activation-induced deaminase/apolipoprotein B mRNA editing enzyme catalytic polypeptide cytidine deaminase family expressed in differentiated skeletal and cardiac muscle. We previously reported that Apobec2 deficiency in mice leads to a shift in muscle fiber type, myopathy, and diminished muscle mass. However, the mechanisms of myopathy caused by Apobec2 deficiency and its physiologic functions are unclear. Here we show that, although Apobec2 localizes to the sarcomeric Z-lines in mouse tissue and cultured myotubes, the sarcomeric structure is not affected in Apobec2-deficient muscle...
November 10, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29112723/in-vitro-and-in-vivo-studies-of-the-als-ftld-protein-chchd10-reveal-novel-mitochondrial-topology-and-protein-interactions
#3
S R Burstein, F Valsecchi, H Kawamata, M Bourens, R Zeng, A Zuberi, T A Milner, S M Cloonan, C Lutz, A Barrientos, G Manfredi
Mutations in coiled-coil-helix-coiled-coil-helix-domain containing 10 (CHCHD10), a mitochondrial twin CX9C protein whose function is still unknown, cause myopathy, motor neuron disease, frontotemporal dementia, and Parkinson's disease. Here, we investigate CHCHD10 topology and its protein interactome, as well as the effects of CHCHD10 depletion or expression of disease-associated mutations in wild-type cells. We find that CHCHD10 associates with membranes in the mitochondrial intermembrane space, where it interacts with a closely related protein, CHCHD2...
November 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29079705/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy
#4
Andrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, Oliver Stehling, Silvia Marchet, Costanza Lamperti, Alberto Ferrari, Alan J Robinson, Ulrich Mühlenhoff, Roland Lill, Massimo Zeviani, Paola Goffrini, Daniele Ghezzi
BACKGROUND: Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, metabolic acidosis and rhabdomyolysis may occur. So far, this disease has been molecularly defined only in Swedish patients, all homozygous for a deep intronic splicing affecting mutation in ISCU encoding a scaffold protein for the assembly of iron-sulfur (Fe-S) clusters...
October 27, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29074296/international-workshop-outcome-measures-and-clinical-trial-readiness-in-primary-mitochondrial-myopathies-in-children-and-adults-consensus-recommendations-rome-italy-16-18-november-2016
#5
Michelangelo Mancuso, Robert McFarland, Thomas Klopstock, Michio Hirano
No abstract text is available yet for this article.
September 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29062463/antioxidant-treatment-reduces-formation-of-structural-cores-and-improves-muscle-function-in-ryr1-y522s-wt-mice
#6
Antonio Michelucci, Alessandro De Marco, Flavia A Guarnier, Feliciano Protasi, Simona Boncompagni
Central core disease (CCD) is a congenital myopathy linked to mutations in the ryanodine receptor type 1 (RYR1), the sarcoplasmic reticulum Ca(2+) release channel of skeletal muscle. CCD is characterized by formation of amorphous cores within muscle fibers, lacking mitochondrial activity. In skeletal muscle of RYR1(Y522S/WT) knock-in mice, carrying a human mutation in RYR1 linked to malignant hyperthermia (MH) with cores, oxidative stress is elevated and fibers present severe mitochondrial damage and cores...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29052516/pure-exercise-intolerance-and-ophthalmoplegia-associated-with-the-m-12-294g%C3%A2-%C3%A2-a-mutation-in-the-mt-tl2-gene-a-case-report
#7
Patrick Soldath, Karen Lindhardt Madsen, Astrid Emilie Buch, Morten Duno, Flemming Wibrand, John Vissing
BACKGROUND: Pure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy. Moreover, the exercise intolerance in these rare patients is yet not well explored, as most of known cases have not been assessed by objective testing, but only by interview. We report a patient with a mitochondrial DNA (mtDNA) mutation that gives rise to an exclusive myopathy associated with exercise intolerance and ophthalmoplegia...
October 19, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29049993/less-limb-muscle-involvement-in-myositis-patients-with-anti-mitochondrial-antibodies
#8
Takeshi Uenaka, Hisatomo Kowa, Yoshihisa Ohtsuka, Tsuneyoshi Seki, Kenji Sekiguchi, Fumio Kanda, Tatsushi Toda
Recent studies have revealed the clinical, histological, and pathophysiological characteristics in a group of inflammatory myopathies with selected autoantibodies. We retrospectively compared the clinical manifestations and histological features between 8 anti-mitochondrial (anti-M2) antibody-positive and 33 antibody-negative patients. Patients with anti-M2 antibodies have been previously reported to have delayed diagnostic confirmation and frequent cardiopulmonary complications in comparison to those without the antibodies...
October 19, 2017: European Neurology
https://www.readbyqxmd.com/read/29040646/statins-affect-skeletal-muscle-performance-evidence-for-disturbances-in-energy-metabolism
#9
Neeltje A E Allard, Tom J J Schirris, Rebecca J Verheggen, Frans G M Russel, Richard J Rodenburg, Jan A M Smeitink, Paul D Thompson, Maria T E Hopman, Silvie Timmers
Context: Statin myopathy is linked to disturbances in mitochondrial function and exercise intolerance. Objectives: To determine whether differences exist in exercise performance, muscle function and mitochondrial oxidative capacity and content between symptomatic and asymptomatic statin users, and non-statin using controls. Design: Cross-sectional study. Setting: Department of Physiology of the Radboud University Medical Center...
October 9, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29038020/the-ca-2-camkk2-axis-mediates-the-telbivudine-induced-upregulation-of-creatine-kinase-implications-for-mechanism-of-antiviral-nucleoside-analogs-side-effect
#10
Long Jianfei, Wang Min, Ma Chunlai, Chen Bicui, Zhang Jiming, Wang Bin
Telbivudine (LdT), a widely prescribed anti-hepatitis B virus (HBV) drug for the treatment of chronic Hepatitis B (CHB), causes adverse reactions ranging from creatine kinase (CK) elevation to myopathy. The purpose of this study was to explore the mechanism(s) of LdT induced CK elevation. The effects of LdT on mitochondrial morphology and proteins (TK2 and β-actin), oxidative stress, intracellular Ca(2+) levels, Ca(2+)-related signaling pathway (CaMKK2/AMPK), and Ca(2+)-related biomarkers such as superoxide dismutase (SOD) and malondialdehyde (MDA) were assessed in human skeletal muscle cells (HSKMCs)...
October 14, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28969510/acute-mitochondrial-myopathy-with-respiratory-insufficiency-and-motor-axonal-polyneuropathy
#11
Ying Zhou, Jianhua Yi, Li Liu, Xiaoping Wang, Liang Dong, Ailian Du
BACKGROUND: Mitochondrial myopathies (MMs) are mainly presented with chronic muscle weakness and accompanied with other syndromes. MM with acute respiratory insufficiency is rare. AIMS: To reveal the clinical, pathological and molecular characteristics of a life-threatening MM. METHODS: Muscle biopsy and enzyme staining were performed in skeletal muscles. Mitochondrial DNA (mtDNA) sequencing was analyzed and heteroplasmy were quantified by pyrosequencing...
October 16, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28962128/3-n-butylphthalide-reduces-the-oxidative-damage-of-muscles-in-an-experimental-autoimmune-myositis-animal-model
#12
Juan Chen, Jingyang Wang, Jiyan Zhang, Chuanqiang Pu
3-n-Butylphthalide (NBP) protects the mitochondria and reduces apoptosis in multiple disease models. However, it remains to be determined whether NBP can protect muscle cells from oxidative stress, lipid peroxidation and apoptosis in myositis. In the present study, a myosin immunization protocol was applied to induce experimental autoimmune myositis (EAM) in guinea pigs. After 4 weeks, a low- or high-dose NBP solution was injected intraperitoneally into the guinea pigs, with saline solution serving as the negative control...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28960041/clevudine-induced-mitochondrial-myopathy
#13
Soo Hyun Park, Kyung Seok Park, Nam Hee Kim, Joong Yang Cho, Moon Soo Koh, Jin Ho Lee
Clevudine was approved as an antiviral agent for hepatitis B virus, which showed marked, rapid inhibition of virus replication without significant toxicity. However, several studies have reported myopathy associated with clevudine therapy. Also, we experienced seven patients who suffered from myopathy during clevudine therapy. To characterize clevudine-induced myopathy, we collected previously reported cases of clevudine myopathy and analyzed all the cases including our cases. We searched electronic databases that were published in English or Korean using PubMed and KoreaMed...
November 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28947214/dominance-of-yeast-aac2-r96h-and-aac2-r252g-mutations-equivalent-to-pathological-mutations-in-ant1-is-due-to-gain-of-function
#14
Cristina Dallabona, Enrico Baruffini, Paola Goffrini, Tiziana Lodi
The mitochondrial ADP/ATP carrier is a nuclear encoded protein, which catalyzes the exchange of ATP generated in mitochondria with ADP produced in the cytosol. In humans, mutations in the major ADP/ATP carrier gene, ANT1, are involved in several degenerative mitochondrial pathologies, leading to instability of mitochondrial DNA. Recessive mutations have been associated with mitochondrial myopathy and cardiomyopathy whereas dominant mutations have been associated with autosomal dominant Progressive External Ophtalmoplegia (adPEO)...
November 18, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28942965/biallelic-c1qbp-mutations-cause-severe-neonatal-childhood-or-later-onset-cardiomyopathy-associated-with-combined-respiratory-chain-deficiencies
#15
René G Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A Jourdain, Kyle Thompson, Aaron R D'Souza, Robert Kopajtich, Charlotte L Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M Strom, Saskia B Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F Chinnery, Zofia M Chrzanowska-Lightowlers, Robert N Lightowlers, Salvatore DiMauro, Sarah E Calvo, Vamsi K Mootha, Maurizio Moggio, Monica Sciacco, Giacomo P Comi, Dario Ronchi, Kei Murayama, Akira Ohtake, Pedro Rebelo-Guiomar, Masakazu Kohda, Dongchon Kang, Johannes A Mayr, Robert W Taylor, Yasushi Okazaki, Michal Minczuk, Holger Prokisch
Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial matrix and has roles in inflammation and infection processes, mitochondrial ribosome biogenesis, and regulation of apoptosis and nuclear transcription. It has an N-terminal mitochondrial targeting peptide that is proteolytically processed after import into the mitochondrial matrix, where it forms a homotrimeric complex organized in a doughnut-shaped structure...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28939701/rapid-targeted-genomics-in-critically-ill-newborns
#16
Cleo C van Diemen, Wilhelmina S Kerstjens-Frederikse, Klasien A Bergman, Tom J de Koning, Birgit Sikkema-Raddatz, Joeri K van der Velde, Kristin M Abbott, Johanna C Herkert, Katharina Löhner, Patrick Rump, Martine T Meems-Veldhuis, Pieter B T Neerincx, Jan D H Jongbloed, Conny M van Ravenswaaij-Arts, Morris A Swertz, Richard J Sinke, Irene M van Langen, Cisca Wijmenga
BACKGROUND: Rapid diagnostic whole-genome sequencing has been explored in critically ill newborns, hoping to improve their clinical care and replace time-consuming and/or invasive diagnostic testing. A previous retrospective study in a research setting showed promising results with diagnoses in 57%, but patients were highly selected for known and likely Mendelian disorders. The aim of our prospective study was to assess the speed and yield of rapid targeted genomic diagnostics for clinical application...
October 2017: Pediatrics
https://www.readbyqxmd.com/read/28893805/melas-syndrome-associated-with-a-new-mitochondrial-trna-val-gene-mutation-m-1616a-g
#17
Yuka Toyoshima, Yuji Tanaka, Kazuo Satomi
We describe the case of a 40-year-old-man with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, with cardiomyopathy and severe heart failure. He had a mitochondrial transfer RNA (tRNA) mutation (m.1616A>G) of the (tRNA-Val) gene, and it was not found in MELAS syndrome ever before. The presence of this newly observed tRNA-Val mutation (m.1616A>G) may induce multiple respiratory chain enzyme deficiencies and contribute to MELAS syndrome symptoms that are associated with mitochondrial DNA (mtDNA) mutations...
September 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28884981/ultrastructural-changes-in-skeletal-muscle-of-infants-with-mitochondrial-respiratory-chain-complex-i-defects
#18
Ji Young Mun, Min Kyo Jung, Se Hoon Kim, Soyong Eom, Sung Sik Han, Young Mock Lee
BACKGROUND AND PURPOSE: The pathogenesis of mitochondrial disease (MD) involves the disruption of cellular energy metabolism, which results from defects in the mitochondrial respiratory chain complex (MRC). We investigated whether infants with MRC I defects showed ultrastructural changes in skeletal muscle. METHODS: Twelve infants were enrolled in this study. They were initially evaluated for unexplained neurodegenerative symptoms, myopathies, or other progressive multiorgan involvement, and underwent muscle biopsies when MD was suspected...
October 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28883258/mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-like-episodes-melas-due-to-a-m-10158t-c-nd3-mutation-with-a-normal-muscle-biopsy
#19
Masako Mukai, Eiichiro Nagata
No abstract text is available yet for this article.
October 1, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28883250/mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-like-episodes-melas-due-to-a-m-10158t-c-nd3-mutation-with-a-normal-muscle-biopsy
#20
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
October 1, 2017: Internal Medicine
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