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Mitochondrial myopathy

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https://www.readbyqxmd.com/read/28739398/transcriptome-analysis-of-ifm-specific-actin-and-myosin-nulls-in-drosophila-melanogaster-unravels-lesion-specific-expression-blueprints-across-muscle-mutations
#1
Aditi Madan, Divesh Thimmaiya, Ari Franco-Cea, Mohammed Aiyaz, Prabodh Kumar, John C Sparrow, Upendra Nongthomba
Muscle contraction is a highly fine-tuned process that requires the precise and timely construction of large protein sub-assemblies to form sarcomeres. Mutations in many genes encoding constituent proteins of this macromolecular machine result in defective functioning of the muscle tissue. However, the pathways underlying muscle degeneration, and manifestation of myopathy phenotypes are not well understood. In this study, we explored transcriptional alterations that ensue from the absence of the two major muscle proteins - myosin and actin - using the Drosophila indirect flight muscles...
July 21, 2017: Gene
https://www.readbyqxmd.com/read/28736735/arginine-and-citrulline-for-the-treatment-of-melas-syndrome
#2
Ayman W El-Hattab, Mohammed Almannai, Fernando Scaglia
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations. In addition to impaired energy production, nitric oxide (NO) deficiency occurs in MELAS syndrome and leads to impaired blood perfusion in microvasculature that can contribute to several complications including stroke-like episodes, myopathy, and lactic acidosis. The supplementation of NO precursors, L-arginine and L-citrulline, increases NO production and hence can potentially have therapeutic utility in MELAS syndrome...
January 2017: Journal of Inborn Errors of Metabolism and Screening
https://www.readbyqxmd.com/read/28729369/pigmentary-retinopathy-rod-cone-dysfunction-and-sensorineural-deafness-associated-with-a-rare-mitochondrial-trna-lys-m-8340g-a-gene-variant
#3
Jaidip S Gill, Steven A Hardy, Emma L Blakely, Sila Hopton, Andrea H Nemeth, Carl Fratter, Joanna Poulton, Robert W Taylor, Susan M Downes
BACKGROUND/AIM: The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with sensorineural deafness who presented to the eye clinic with nyctalopia, retinal pigmentary changes and bilateral cortical cataracts. METHODS: The patient was examined clinically and investigated with autofluorescence, full-field electroretinography, electro-oculogram and dark adaptometry...
July 20, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28721426/co-localization-of-macrophage-inhibitory-factor-and-nix-in-skeletal-muscle-of-the-aged-male-interleukin-10-null-mouse
#4
P Abadir, F Ko, R Marx, L Powell, E Kieserman, H Yang, J Walston
Chronic inflammation is associated with muscle weakness and frailty in older adults. The antagonistic cross-talk between macrophage migration inhibitory factor (Mif), an anti-apoptotic cytokine and NIP3-like protein X (Nix), a pro-apoptotic mitochondrial protein, may play a role in mitochondrial free radical homeostasis and inflammatory myopathies. We examined Nix-Mif interaction in inflammation and aging using young and old, IL-10tm/tm (a rodent model of chronic inflammation) and C57BL/6 mice. In this study, we observed that Nix and Mif were co-localized in skeletal muscles of aged and inflamed mice...
2017: Journal of Frailty & Aging
https://www.readbyqxmd.com/read/28719515/anaesthetic-management-of-patients-with-myopathies
#5
Mark Schieren, Jerome Defosse, Andreas Böhmer, Frank Wappler, Mark U Gerbershagen
: The anaesthetic management of patients with myopathies is challenging. Considering the low incidence and heterogeneity of these disorders, most anaesthetists are unfamiliar with key symptoms, associated co-morbidities and implications for anaesthesia. The pre-anaesthetic assessment aims at the detection of potentially undiagnosed myopathic patients and, in case of known or suspected muscular disease, on the quantification of disease progression. Ancillary testing (e.g. echocardiography, ECG, lung function testing etc...
July 15, 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28717071/anti-mitochondrial-m2-antibodies-enhance-the-risk-of-supraventricular-arrhythmias-in-patients-with-elevated-hepatobiliary-enzyme-levels
#6
Hiroki Konishi, Koji Fukuzawa, Shumpei Mori, Seimi Satomi-Kobayashi, Kunihiko Kiuchi, Atsushi Suzuki, Yoshihiko Yano, Akihiro Yoshida, Ken-Ichi Hirata
Objective Supraventricular arrhythmias are commonly detected in patients with anti-mitochondrial antibody M2 (AMA-M2)-associated myopathy. However, the prevalence of supraventricular arrhythmias in unselected AMA-M2-positive patients and the impact of AMA-M2 on supraventricular arrhythmias have yet to be fully investigated. Methods We analyzed 384 patients (116 men; age, 60 [48-69] years), who underwent AMA-M2 testing following the detection of elevated hepatobiliary enzymes. Supraventricular arrhythmias involving atrial fibrillation, atrial flutter, atrial tachycardia, sick sinus syndrome, and atrial standstill were confirmed by a 12-lead electrocardiogram, 24-hour ambulatory monitoring, and physician-assigned diagnoses within the three years before and two years after the AMA-M2 test...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28716914/metabolic-profiles-of-exercise-in-patients-with-mcardle-disease-or-mitochondrial-myopathy
#7
Nigel F Delaney, Rohit Sharma, Laura Tadvalkar, Clary B Clish, Ronald G Haller, Vamsi K Mootha
McArdle disease and mitochondrial myopathy impair muscle oxidative phosphorylation (OXPHOS) by distinct mechanisms: the former by restricting oxidative substrate availability caused by blocked glycogen breakdown, the latter because of intrinsic respiratory chain defects. We applied metabolic profiling to systematically interrogate these disorders at rest, when muscle symptoms are typically minimal, and with exercise, when symptoms of premature fatigue and potential muscle injury are unmasked. At rest, patients with mitochondrial disease exhibit elevated lactate and reduced uridine; in McArdle disease purine nucleotide metabolites, including xanthine, hypoxanthine, and inosine are elevated...
July 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28716227/mitochondrial-trna-genes-are-hotspots-for-mutations-in-a-cohort-of-patients-with-exercise-intolerance-and-mitochondrial-myopathy
#8
Yuanyuan Lu, Danhua Zhao, Sheng Yao, Shiwen Wu, Daojun Hong, Qingqing Wang, Jing Liu, Jan A M Smeitink, Yun Yuan, Zhaoxia Wang
OBJECTIVE: Mitochondrial myopathy (MM) is a relatively rare type of mitochondrial disorder characterized by predominant skeletal muscle involvement. Both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) mutations have been reported as the genetic causes of this disease. Here, we described the clinical and genetic features of a cohort of patients with MM. METHODS: We conducted a retrospective, single center study enrolling 22 patients with clinically and myopathologically diagnosed MM...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28712726/sengers-syndrome-associated-mitochondrial-acylglycerol-kinase-is-a-subunit-of-the-human-tim22-protein-import-complex
#9
Yilin Kang, David A Stroud, Michael J Baker, David P De Souza, Ann E Frazier, Michael Liem, Dedreia Tull, Suresh Mathivanan, Malcolm J McConville, David R Thorburn, Michael T Ryan, Diana Stojanovski
Acylglycerol kinase (AGK) is a mitochondrial lipid kinase that catalyzes the phosphorylation of monoacylglycerol and diacylglycerol to lysophosphatidic acid and phosphatidic acid, respectively. Mutations in AGK cause Sengers syndrome, which is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Here we identified AGK as a subunit of the mitochondrial TIM22 protein import complex. We show that AGK functions in a kinase-independent manner to maintain the integrity of the TIM22 complex, where it facilitates the import and assembly of mitochondrial carrier proteins...
July 11, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28712724/acylglycerol-kinase-mutated-in-sengers-syndrome-is-a-subunit-of-the-tim22-protein-translocase-in-mitochondria
#10
Milena Vukotic, Hendrik Nolte, Tim König, Shotaro Saita, Maria Ananjew, Marcus Krüger, Takashi Tatsuta, Thomas Langer
Mutations in mitochondrial acylglycerol kinase (AGK) cause Sengers syndrome, which is characterized by cataracts, hypertrophic cardiomyopathy, and skeletal myopathy. AGK generates phosphatidic acid and lysophosphatidic acid, bioactive phospholipids involved in lipid signaling and the regulation of tumor progression. However, the molecular mechanisms of the mitochondrial pathology remain enigmatic. Determining its mitochondrial interactome, we have identified AGK as a constituent of the TIM22 complex in the mitochondrial inner membrane...
July 8, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28701185/case-report-perioperative-management-of-caesarean-section-for-a-parturient-with-mitochondrial-myopathy
#11
Qiang Zheng, Penghui Wei, Jinfeng Zhou, Haipeng Zhou, Fucheng Ji, Wenxi Tang, Jianjun Li
BACKGROUND: Mitochondrial myopathies represent a group of disorders caused by mitochondrial defects that disrupt energy production. Most patients have issues from infancy to early childhood. Pregnancy in women with mitochondrial myopathy is uncommon and the management for these parturients is full of challenges. CASE PRESENTATION: A 36-year-old woman with mitochondrial myopathy was scheduled for caesarean section under a combined spinal-epidural anaesthesia and multi-model analgesia...
July 12, 2017: BMC Anesthesiology
https://www.readbyqxmd.com/read/28700655/cyclophosphamide-leads-to-persistent-deficits-in-physical-performance-and-in-vivo-mitochondria-function-in-a-mouse-model-of-chemotherapy-late-effects
#12
Marie-Laure Crouch, Gary Knowels, Rudolph Stuppard, Nolan G Ericson, Jason H Bielas, David J Marcinek, Karen L Syrjala
Fatigue is the symptom most commonly reported by long-term cancer survivors and is increasingly recognized as related to skeletal muscle dysfunction. Traditional chemotherapeutic agents can cause acute toxicities including cardiac and skeletal myopathies. To investigate the mechanism by which chemotherapy may lead to persistent skeletal muscle dysfunction, mature adult mice were injected with a single cyclophosphamide dose and evaluated for 6 weeks. We found that exposed mice developed a persistent decrease in treadmill running time compared to baseline (25...
2017: PloS One
https://www.readbyqxmd.com/read/28695364/revisiting-mitochondrial-ocular-myopathies-a-study-from-the-italian-network
#13
D Orsucci, C Angelini, E Bertini, V Carelli, G P Comi, A Federico, C Minetti, M Moggio, T Mongini, F M Santorelli, S Servidei, P Tonin, A Ardissone, L Bello, C Bruno, E Caldarazzo Ienco, D Diodato, M Filosto, C Lamperti, I Moroni, O Musumeci, E Pegoraro, G Primiano, D Ronchi, A Rubegni, S Salvatore, M Sciacco, M L Valentino, L Vercelli, A Toscano, M Zeviani, G Siciliano, M Mancuso
Ocular myopathy, typically manifesting as progressive external ophthalmoplegia (PEO), is among the most common mitochondrial phenotypes. The purpose of this study is to better define the clinical phenotypes associated with ocular myopathy. This is a retrospective study on a large cohort from the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases". We distinguished patients with ocular myopathy as part of a multisystem mitochondrial encephalomyopathy (PEO-encephalomyopathy), and then PEO with isolated ocular myopathy from PEO-plus when PEO was associated with additional features of multisystemic involvement...
July 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28688452/crossroads-between-peripheral-atherosclerosis-western-type-diet-and-skeletal-muscle-pathophysiology-emphasis-on-apolipoprotein-e-deficiency-and-peripheral-arterial-disease
#14
REVIEW
Peggy Sfyri, Antonios Matsakas
Atherosclerosis is a chronic inflammatory process that, in the presence of hyperlipidaemia, promotes the formation of atheromatous plaques in large vessels of the cardiovascular system. It also affects peripheral arteries with major implications for a number of other non-vascular tissues such as the skeletal muscle, the liver and the kidney. The aim of this review is to critically discuss and assimilate current knowledge on the impact of peripheral atherosclerosis and its implications on skeletal muscle homeostasis...
July 8, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28686997/management-of-epilepsy-in-merrf-syndrome
#15
REVIEW
Josef Finsterer, Sinda Zarrouk-Mahjoub
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome is a rare syndromic mitochondrial disorder (MID) with a broad phenotypic but narrow genotypic heterogeneity. One of the predominant phenotypic features in addition to myopathy is epilepsy. The most frequent seizure type in MERRF is generalised myoclonic seizure but also focal myoclonic, focal atonic, generalised tonic-clonic, generalised atonic, generalised myoclonic-atonic, typical absences, or tonic-clonic seizures of unknown onset have been reported...
June 24, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28665810/diabetic-myopathy-current-molecular-understanding-of-this-novel-neuromuscular-disorder
#16
Cynthia M F Monaco, Christopher G R Perry, Thomas J Hawke
PURPOSE OF REVIEW: Here we summarize the evidence from human studies of the impairments to the structural, functional, and metabolic capacities in skeletal muscle in those with type 1 diabetes (T1D) - a condition known as diabetic myopathy. Given the importance of skeletal muscle for blood lipid and glucose management, the development and progression of diabetic myopathy would not only lead to increased insulin resistance, but also impact the ability to mitigate dysglycemic/dyslipidemic burdens...
June 29, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28655651/cichoric-acid-improved-hyperglycaemia-and-restored-muscle-injury-via-activating-antioxidant-response-in-mld-stz-induced-diabetic-mice
#17
Di Zhu, Xinglin Zhang, Yajie Niu, Zhijun Diao, Bo Ren, Xingyu Li, Zhigang Liu, Xuebo Liu
Cichoric acid (CA), extracted from edible plants and vegetables, is a potential natural nutraceutical, with antioxidant and hypoglycaemic biological functions. The objective of this study was to explore the potential underlying molecular mechanisms involved in normalizing diabetes-related changes in hyperglycaemia via pancreas apoptosis and muscle injury induced by multiple low-dose STZ (MLD-STZ) injection in response to dietary supplementation with CA. To induce the MLD-STZ diabetic mice, the C57BL/6J mice were intraperitoneally injected with STZ (50 mg/kg body weight) for consecutive five days...
June 26, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28649515/higher-oxidative-stress-in-skeletal-muscle-of-mcardle-disease-patients
#18
Jan J Kaczor, Holly A Robertshaw, Mark A Tarnopolsky
McArdle disease (MCD) is an autosomal recessive condition resulting from skeletal muscle glycogen phosphorylase deficiency. The resultant block in glycogenolysis leads to an increased flux through the xanthine oxidase pathway (myogenic hyperuricemia) and could lead to an increase in oxidative stress. We examined markers of oxidative stress (8-isoprostane and protein carbonyls), NAD(P)H-oxidase, xanthine oxidase and antioxidant enzyme (superoxide dismutase, catalase and glutathione peroxidase) activity in skeletal muscle of MCD patients (N = 12) and controls (N = 12)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28637934/a-case-of-rhabdomyolysis-after-status-epilepticus-without-stroke-like-episodes-in-mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-like-episodes
#19
Jun Yokoyama, Hiroo Yamaguchi, Hiroshi Shigeto, Takeshi Uchiumi, Hiroyuki Murai, Jun-Ichi Kira
No abstract text is available yet for this article.
June 22, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28630220/beyond-cervical-lipomas-myoclonus-gait-disorder-and-multisystem-involvement-leading-to-mitochondrial-disease
#20
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m...
June 19, 2017: BMJ Case Reports
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