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Mitochondrial myopathy

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https://www.readbyqxmd.com/read/28630220/beyond-cervical-lipomas-myoclonus-gait-disorder-and-multisystem-involvement-leading-to-mitochondrial-disease
#1
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
https://www.readbyqxmd.com/read/28620494/endemic-goitre-and-hypothyroidism-in-an-adult-female-patient-dependent-on-total-parenteral-nutrition
#2
S Pearson, C Donnellan, L Turner, E Noble, K Seejore, R D Murray
We present the case of a thirty-year-old female patient who was referred to the endocrinology team with an enlarging goitre and biochemical hypothyroidism. She had been dependent on total parenteral nutrition for the previous six years as a result of intestinal failure thought to be caused by possible underlying mitochondrial disease. The patient also suffers from a Desmin myopathy, and at present, the exact aetiology behind her intestinal failure is not certain. The goitre was smooth and had been enlarging slowly over the previous few months...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28609139/evidence-and-role-of-phlebitis-and-lipid-infiltration-in-the-onset-and-pathogenesis-of-wooden-breast-disease-in-modern-broiler-chickens
#3
Michael Babak Papah, Erin Brannick, Carl J Schmidt, Behnam Abasht
Wooden Breast Disease (WBD), a myopathy that frequently affects modern broiler chickens, is a disorder that has been associated with significant economic losses in the poultry industry. To examine tissue changes associated with the onset and early pathogenesis of this disorder, a time-series experiment was conducted using chickens from a high-breast-muscle-yield, purebred commercial broiler line. Birds were raised for up to seven weeks, with a subset of birds sampled weekly. Breast muscle tissues were extracted at necropsy and processed for analysis by light microscopy and transmission electron microscopy...
June 13, 2017: Avian Pathology: Journal of the W.V.P.A
https://www.readbyqxmd.com/read/28603900/mitochondrial-point-mutation-m-3243a%C3%A2-%C3%A2-g-associates-with-lower-bone-mineral-density-thinner-cortices-and-reduced-bone-strength-a-case-control-study
#4
Jakob Høgild Langdahl, Anja Lisbeth Frederiksen, Stinus Jørn Hansen, Per Heden Andersen, Knud Bonnet Yderstraede, Morten Dunø, John Vissing, Morten Frost
Mitochondrial dysfunction is associated with several clinical manifestations including diabetes, neurological disorders, renal and hepatic diseases and myopathy. While mitochondrial dysfunction is associated with increased bone resorption and decreased bone formation in mouse models, effects of alterations in mitochondrial function on bone remodelling and mass have not been investigated in humans. We recruited 45 carriers (29 females, 16 males) with the m.3243A > G mutation and healthy controls matched for gender, age, height and menopausal status...
June 11, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28590155/cardiopulmonary-exercise-testing-and-metabolic-myopathies
#5
Marshall S Riley, D Paul Nicholls, Christopher B Cooper
Skeletal muscle requires a large increase in its adenosine triphosphate production to meet the energy needs of exercise. Normally, most of this increase in energy is supplied by the aerobic process of oxidative phosphorylation. The main defects in muscle metabolism that interfere with production of adenosine triphosphate are a) disorders of glycogenolysis and glycolysis, which prevent both carbohydrate entering the tricarboxylic acid cycle and the production of lactic acid, b) mitochondrial myopathies where the defect is usually within the electron transport chain, reducing the rate of oxidative phosphorylation and c) disorders of lipid metabolism...
June 7, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28586319/rev-erb-and-ror-therapeutic-targets-for-treating-myopathies
#6
REVIEW
Ryan D Welch, Colin A Flaveny
Muscle is primarily known for its mechanical roles in locomotion, maintenance of posture, and regulation of cardiac and respiratory function. There are numerous medical conditions that adversely affect muscle, myopathies that disrupt muscle development, regeneration and protein turnover to detrimental effect. Skeletal muscle is also a vital secretory organ that regulates thermogenesis, inflammatory signaling and directs context specific global metabolic changes in energy substrate preference on a daily basis...
June 6, 2017: Physical Biology
https://www.readbyqxmd.com/read/28573363/-risk-genes-in-myopathies-and-mitochondrial-diseases
#7
REVIEW
C Stendel, M C Walter, T Klopstock
Myopathies and mitochondrial diseases pose a major challenge in diagnosis due to the multitude of different entities and - in the case of mitochondriopathies - the possible involvement of multiple organs. Furthermore, there is broad clinical variability within particular diseases; patients with hereditary myopathy, for example, can show great phenotypic variability despite identical genetic defects. In addition to environmental factors, gender-specific influences, and the degree of heteroplasmy in mitochondrial diseases, the existence of disease-modifying genes has long been assumed as an explanation...
June 1, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28559828/multisystem-disease-including-eosinophilia-and-progressive-hyper-creatine-kinase-emia-over-10-years-suggests-mitochondrial-disorder
#8
Josef Finsterer, Johannes Huber
BACKGROUND: Eosinophilia has not been reported as a manifestation of a mitochondrial disorder (MID). Here, we report a patient with clinical features suggesting a MID and permanent eosinophilia, multisystem disease, and progressive hyper-creatine-kinase (CK)-emia for at least 10 years. MATERIALS AND METHODS: Methods applied included a clinical exam, blood chemical investigations, electrophysiological investigations, imaging, and invasive cardiological investigations...
January 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28554942/msto1-is-a-cytoplasmic-pro-mitochondrial-fusion-protein-whose-mutation-induces-myopathy-and-ataxia-in-humans
#9
Aniko Gal, Peter Balicza, David Weaver, Shamim Naghdi, Suresh K Joseph, Péter Várnai, Tibor Gyuris, Attila Horváth, Laszlo Nagy, Erin L Seifert, Maria Judit Molnar, György Hajnóczky
The protein MSTO1 has been localized to mitochondria and linked to mitochondrial morphology, but its specific role has remained unclear. We identified a c.22G > A (p.Val8Met) mutation of MSTO1 in patients with minor physical abnormalities, myopathy, ataxia, and neurodevelopmental impairments. Lactate stress test and myopathological results suggest mitochondrial dysfunction. In patient fibroblasts, MSTO1 mRNA and protein abundance are decreased, mitochondria display fragmentation, aggregation, and decreased network continuity and fusion activity...
May 29, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28554558/novel-truncating-variant-in-dna2-related-congenital-onset-myopathy-and-ptosis-suggests-genotype-phenotype-correlation
#10
P Phowthongkum, A Sun
DNA2 encodes a protein with nuclease, ATPase, and helicase domains, and serves to maintain mitochondrial DNA integrity. Mutations in DNA2 cause autosomal dominant progressive ophthalmoplegia with mitochondrial DNA deletions. This disorder was first reported in four patients with heterozygous, missense mutations in DNA2. Clinical symptoms include limb-girdle and lower extremity weakness, myalgia, and ophthalmoplegia. All had a slowly progressive disease course and did not present for clinical evaluation until the fifth or sixth decade...
July 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28547000/whole-exome-sequencing-of-a-patient-with-suspected-mitochondrial-myopathy-reveals-novel-compound-heterozygous-variants-in-ryr1
#11
Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson, Sarah Macklin, Margot A Cousin, Nicole J Boczek, Eric W Klee, Elliot L Dimberg, Kathleen D Kennelly, Paldeep S Atwal
BACKGROUND: Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS: We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28544275/recessive-mutations-in-msto1-cause-mitochondrial-dynamics-impairment-leading-to-myopathy-and-ataxia
#12
Alessia Nasca, Chiara Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Olafur Thor Magnusson, Aniko Gal, David Weaver, Rachele Rossi, Annarita Armaroli, Marika Pane, Rahul Phadke, Anna Sarkozy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, György Hajnóczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani, Alessandra Ferlini, Daniele Ghezzi
We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of mitochondria. As for other mutations affecting genes involved in mitochondrial dynamics, no biochemical defects typical of mitochondrial disorders were reported...
May 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28540185/mitochondrial-myopathy-dysmorphism-exercise-induced-vomiting-and-tachycardia-the-mutation-m-4831g%C3%A2-%C3%A2-a
#13
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#14
Josef Finsterer, Fulvio Alexandre Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28513170/phospholipid-biomimetic-fluorescent-mitochondrial-probe-with-ultrahigh-selectivity-enables-in-situ-and-high-fidelity-tissue-imaging
#15
Ruoyao Zhang, Yuming Sun, Minggang Tian, Ge Zhang, Ruiqing Feng, Xuechen Li, Lifang Guo, Xiaoqiang Yu, Jing Zhi Sun, Xiuquan He
In situ and directly imaging mitochondria in tissues instead of isolated cells can offer more native and accurate information. Particularly, in the clinical diagnose of mitochondrial diseases such as mitochondrial myopathy, it is a routine examination item to directly observe mitochondrial morphology and number in muscle tissues from patients. However, it is still a challenging task because the selectivity of available probes is inadequate for exclusively tissue imaging. Inspired by the chemical structure of amphiphilic phospholipids in mitochondrial inner membrane, we synthesized a phospholipid-biomimetic amphiphilic fluorescent probe (Mito-MOI) by modifying a C18-alkyl chain to the lipophilic side of carbazole-indolenine cation...
May 25, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28499982/identification-of-fastkd2-compound-heterozygous-mutations-as-the-underlying-cause-of-autosomal-recessive-melas-like-syndrome
#16
Da Hye Yoo, Young-Chul Choi, Da Eun Nam, Sun Seong Choi, Ji Won Kim, Byung-Ok Choi, Ki Wha Chung
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many parts of the body, particularly the brain and muscles. This study examined a Korean MELAS-like syndrome patient with seizure, stroke-like episode, and optic atrophy. Target sequencing of whole mtDNA and 73 nuclear genes identified compound heterozygous mutations p.R205X and p.L255P in the FASTKD2. Each of his unaffected parents has one of the two mutations, and both mutations were not found in 302 controls...
May 9, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28489755/kennedy-disease-with-difficulty-in-differential-diagnosis-a-case-report
#17
Yating Chen, Peng Luo, Zhongli Li, Hengping Hu, Duobin Wu, Tingting Xu, Xingzuo Wang, Haiting Xie
RATIONALE: Kennedy disease (KD) is also known as spinal bulbar muscular dystrophy. As KD has similar symptoms with most neuromuscular diseases, so it is difficult to make a rapid diagnosis clinically. PATIENT CONCERNS: We report a case of a 43-year-old male with progressive limb proximal weakness without family history. Physical examination showed gynecomastia, erectile dysfunction, bilateral tendon reflex and quadriceps weakness, and tongue muscle atrophy. DIAGNOSES: Laboratory examination found increased creatine kinase, impaired glucose tolerance, and abnormal lactic acid values...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28480171/pathogenicity-in-polg-syndromes-dna-polymerase-gamma-pathogenicity-prediction-server-and-database
#18
Anssi Nurminen, Gregory A Farnum, Laurie S Kaguni
DNA polymerase gamma (POLG) is the replicative polymerase responsible for maintaining mitochondrial DNA (mtDNA). Disorders related to its functionality are a major cause of mitochondrial disease. The clinical spectrum of POLG syndromes includes Alpers-Huttenlocher syndrome (AHS), childhood myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), the ataxia neuropathy spectrum (ANS) and progressive external ophthalmoplegia (PEO). We have collected all publicly available POLG-related patient data and analyzed it using our pathogenic clustering model to provide a new research and clinical tool in the form of an online server...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/28458318/familial-pernicious-chronic-intestinal-pseudo-obstruction-with-a-mitochondrial-dna-a3243g-mutation
#19
Junichiro Suzuki, Mai Iwata, Hideyuki Moriyoshi, Suguru Nishida, Takeshi Yasuda, Yasuhiro Ito
We report the case of a mother and two children who shared a mitochondrial DNA A3243G mutation. The mother had diabetes mellitus, neurogenic bladder, bradykinesia, dystonia, and slowly progressive cerebellar ataxia. Her two daughters were diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes at adolescence. They all presented with gastrointestinal symptoms at an advanced clinical stage. They were diagnosed with chronic intestinal pseudo-obstruction, and they were resistant to therapy...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28456665/a-novel-paradigm-links-mitochondrial-dysfunction-with-muscle-stem-cell-impairment-in-sepsis
#20
REVIEW
Laurent Chatre, Franck Verdonk, Pierre Rocheteau, Clément Crochemore, Fabrice Chrétien, Miria Ricchetti
Sepsis is an acute systemic inflammatory response of the body to microbial infection and a life threatening condition associated with multiple organ failure. Survivors may display long-term disability with muscle weakness that remains poorly understood. Recent data suggest that long-term myopathy in sepsis survivors is due to failure of skeletal muscle stem cells (satellite cells) to regenerate the muscle. Satellite cells impairment in the acute phase of sepsis is linked to unusual mitochondrial dysfunctions, characterized by a dramatic reduction of the mitochondrial mass and hyperactivity of residual organelles...
April 26, 2017: Biochimica et Biophysica Acta
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