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Metabolic myopathy

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https://www.readbyqxmd.com/read/28424480/ketogenic-diet-attenuates-hepatopathy-in-mouse-model-of-respiratory-chain-complex-iii-deficiency-caused-by-a-bcs1l-mutation
#1
Janne Purhonen, Jayasimman Rajendran, Matthias Mörgelin, Kristiina Uusi-Rauva, Shintaro Katayama, Kaarel Krjutskov, Elisabet Einarsdottir, Vidya Velagapudi, Juha Kere, Matti Jauhiainen, Vineta Fellman, Jukka Kallijärvi
Mitochondrial disorders are among the most prevalent inborn errors of metabolism but largely lack treatments and have poor outcomes. High-fat, low-carbohydrate ketogenic diets (KDs) have shown beneficial effects in mouse models of mitochondrial myopathies, with induction of mitochondrial biogenesis as the suggested main mechanism. We fed KD to mice with respiratory chain complex III (CIII) deficiency and progressive hepatopathy due to mutated BCS1L, a CIII assembly factor. The mutant mice became persistently ketotic and tolerated the KD for up to 11 weeks...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28396719/case-of-hepatocellular-carcinoma-in-a-patient-with-hereditary-tyrosinemia-in-the-post-newborn-screening-era
#2
Essam M Imseis, John S Bynon, Chad Thornhill
Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. The use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and early diagnosis through newborn screening initiatives have resulted in a sharp decline in morbidity and mortality associated with this disease. We present a case report of a 7-year-old patient with HT-1 who was born prior to the addition of tyrosinemia to the newborn screening in her birth area...
March 28, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28391974/generation-of-induced-pluripotent-stem-cells-as-disease-modelling-of-nlsdm
#3
D Tavian, S Missaglia, M Castagnetta, D Degiorgio, E M Pennisi, R A Coleman, P Dell'Era, C Mora, C Angelini, D A Coviello
Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare defect of triacylglycerol metabolism, characterized by the abnormal storage of neutral lipid in organelles known as lipid droplets (LDs). The main clinical features are progressive myopathy and cardiomyopathy. The onset of NLSDM is caused by autosomal recessive mutations in the PNPLA2 gene, which encodes adipose triglyceride lipase (ATGL). Despite its name, this enzyme is present in a wide variety of cell types and catalyzes the first step in triacylglycerol lipolysis and the release of fatty acids...
April 3, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28389692/familial-early-onset-paget-s-disease-of-bone-associated-with-a-novel-hnrnpa2b1-mutation
#4
Xuan Qi, Qianqian Pang, Jiawei Wang, Zhen Zhao, Ou Wang, Lijun Xu, Jiangfeng Mao, Yan Jiang, Mei Li, Xiaoping Xing, Wei Yu, Asan, Weibo Xia
Paget disease of bone (PDB) is a common metabolic bone disease characterized by increased bone resorption and disorganized bone formation which affect single or multiple sites of bones. Although the exact cause of PDB is still controversial, genetic factors are considered to play an important role in PDB. Several genes involved in the differentiation or function of osteoclast were shown to be associated with PDB or related syndrome such as SQSTM1, TNFRSF11A, TNFRSF11B, and ZNF687. Multisystem proteinopathy (MSP), a newly proposed syndrome including inclusion body myopathy (IBM), PDB, frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS), is mainly caused by mutation in VCP gene...
April 7, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28375073/myositis-non-inflammatory-mechanisms-an-up-dated-review
#5
Emilia Manole, Alexandra E Bastian, Niculina Butoianu, Hans H Goebel
Idiopathic inflammatory myopathies (IIM) represent a heterogeneous group of rare muscular diseases, with no clearly known causes. IIM frequently have an incomplete response to treatment due to the difficulty in distinguishing between IIM forms, and due to neglect their non-inflammatory causes. Important data concerning non-immune mechanisms in IIM pathology have been recently accumulated. There is a correlation between inflammatory and non-inflammatory mechanisms, but their involvement in IIM pathogenesis is still unknown...
2017: Journal of Immunoassay & Immunochemistry
https://www.readbyqxmd.com/read/28348531/mitochondrial-bioenergetics-in-the-metabolic-myopathy-accompanying-peripheral-artery-disease
#6
REVIEW
Victoria G Rontoyanni, Omar Nunez Lopez, Grant T Fankhauser, Zulfiqar F Cheema, Blake B Rasmussen, Craig Porter
Peripheral artery disease (PAD) is a serious but relatively underdiagnosed and undertreated clinical condition associated with a marked reduction in functional capacity and a heightened risk of morbidity and mortality. The pathophysiology of lower extremity PAD is complex, and extends beyond the atherosclerotic arterial occlusion and subsequent mismatch between oxygen demand and delivery to skeletal muscle mitochondria. In this review, we evaluate and summarize the available evidence implicating mitochondria in the metabolic myopathy that accompanies PAD...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28343425/ppar-%C3%AE-agonists-are-still-on-the-rise-an-update-on-clinical-and-experimental-findings
#7
Nicola Ferri, Alberto Corsini, Cesare Sirtori, Massimiliano Ruscica
Non-fasting plasma triglyceride (TG) and remnant cholesterol levels, cholesterol content of triglyceride-rich lipoproteins, have been suggested to be an additional cause of cardiovascular diseases; thus, pharmacological TG-lowering with fibrates, activators of PPAR-alpha system, has been linked to risk reduction. Areas covered: This manuscript reviews available evidence on clinical trials involving highly selective PPAR-α agonists (i.e., pemafibrate) and drugs used in the pre-clinical and experimental setting (e...
March 27, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/28340691/fabry-disease-a-fundamental-genetic-modifier-of-cardiac-function
#8
REVIEW
A Tadevosyan
Fabry disease (FD) is an inherited X-linked metabolic storage disorder triggered by abnormalities in the GLA gene at Xq22, which leads to a deficiency in α-galactosidase A and massive accumulation of intralysosomal glycosphingolipids. Cardiac complications are very common in FD and are the main cause of late morbidity, as well as early mortality in both hemizygous men and heterozygous women. There is a need for a multidisciplinary approach to evaluation and management of FD patients as there is a wide range of presentation of FD, which varies with mutation and other organ involvement/dysfunction...
January 2017: Current Research in Translational Medicine
https://www.readbyqxmd.com/read/28335860/-muscling-throughout-life-integrating-studies-of-muscle-development-homeostasis-and-disease-in-zebrafish
#9
Michelle F Goody, Erin V Carter, Elisabeth A Kilroy, Lisa Maves, Clarissa A Henry
The proper development and function of skeletal muscle is vital for health throughout the lifespan. Skeletal muscle function enables posture, breathing, and locomotion; and also impacts systemic processes-such as metabolism, thermoregulation, and immunity. Diseases of skeletal muscle (myopathies, muscular dystrophies) and even some neurological, age-related, and metabolic diseases compromise muscle function and negatively affect health span and quality of life. There have been numerous, recent examples of studies on skeletal muscle development with exciting, therapeutic implications for muscle diseases...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28333717/effect-of-resistance-exercise-on-muscle-metabolism-and-autophagy-in-sibm
#10
Jae-Hoon Jeong, Dae-Seung Yang, Dong-Ju Hwang, Joon-Yong Cho, Eun-Bum Kang
PURPOSE: Sporadic inclusion body myositis (sIBM), a muscular degenerative disease in the elderly, is an inflammatory myopathy characterized by muscle weakness in the wrist flexor, quadriceps, and tibialis anterior muscles. We aimed to identify the therapeutic effect of resistance exercise (RE) in improving sIBM symptoms in an sIBM animal model. METHODS: Six-week-old male Wistar rats were divided into a sham group (sham, n = 12), chloroquine-control group (CQ-con, n = 12), and chloroquine-RE group (CQ-RE, n = 12)...
March 23, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28325824/persistence-of-myopathy-in-cushing-s-syndrome-evaluation-of-the-german-cushing-s-registry
#11
Christina Maria Berr, Mareike R Stieg, Timo Deutschbein, Marcus Quinkler, Ralf Schmidmaier, Andrea Osswald, Nicole Reisch, Katrin Ritzel, Christina Dimopoulou, Julia Fazel, Stefanie Hahner, Gunter K Stalla, Felix Beuschlein, Martin Reincke
BACKGROUND: Cushing's syndrome (CS) is characterized by an excessive secretion of glucocorticoids that results in a characteristic clinical phenotype. One feature of clinical hypercortisolism is breakdown of protein metabolism translating into clinical consequences including glucocorticoid induced myopathy. While surgery is effective in control of cortisol excess, the effect of biochemical remission on muscular function is yet unclear. METHODS: In a cross-sectional study we analyzed 47 patients with CS during the florid phase (ActiveCS)...
March 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28299359/aifm1-mutation-presenting-with-fatal-encephalomyopathy-and-mitochondrial-disease-in-an-infant
#12
Sarah U Morton, Sanjay P Prabhu, Hart G W Lidov, Jiahai Shi, Irina Anselm, Catherine A Brownstein, Matthew N Bainbridge, Alan H Beggs, Sara O Vargas, Pankaj B Agrawal
Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novel AIFM1 variant presenting unusually early in life with mitochondrial disease, rapid deterioration, and death. Autopsy, at the age of 4 mo, revealed features of mitochondrial encephalopathy, myopathy, and involvement of peripheral nerves with axonal degeneration...
March 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28292886/optical-probing-of-gastrocnemius-in-patients-with-peripheral-artery-disease-characterizes-myopathic-biochemical-alterations-and-correlates-with-stage-of-disease
#13
Ryan A Becker, Kim Cluff, Nithyanandhi Duraisamy, Hootan Mehraein, Hussam Farhoud, Tracie Collins, George P Casale, Iraklis I Pipinos, Jeyamkondan Subbiah
Peripheral artery disease (PAD) is a condition caused by atherosclerotic blockages in the arteries supplying the lower limbs and is characterized by ischemia of the leg, progressive myopathy, and increased risk of limb loss. The affected leg muscles undergo significant changes of their biochemistry and metabolism including variations in the levels of many key proteins, lipids, and nucleotides. The mechanisms behind these changes are poorly understood. The objective of this study was to correlate the severity of the PAD disease stage and associated hemodynamic limitation (determined by the ankle brachial index, ABI) in the legs of the patients with alterations in the biochemistry of chronically ischemic leg muscle as determined by ATR-Fourier transform infrared micro-spectroscopy...
March 2017: Physiological Reports
https://www.readbyqxmd.com/read/28277555/frequency-and-causes-of-hypotonia-in-neonatal-period-with-the-gestational-age-of-more-than-36-weeks-in-nicu-of-mofid-children-hospital-tehran-iran-during-2012-2014
#14
Nosratollah Seyed Shahabi, Hossain Fakhraee, Mohammad Kazemian, Abolfazl Afjeh, Minoo Fallahi, Maryam Shariati, Fatemeh Gorji
OBJECTIVE: Hypotonia is a serious neurologic problem in neonatal period. Although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. The objective of this study was to determine the frequency of neonatal hypotonia then to ascertain of the most common causes. MATERIALS & METHODS: This cross -sectional prospective study was carried out on the 3281 term infants hospitalized in conventional and NICU of Mofid Children Hospital, Tehran, Iran during 2012-2014...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28269789/histopathologic-and-biochemical-evidence-for-mitochondrial-disease-among-279-patients-with-severe-statin-myopathy
#15
Tieying Hou, Yilan Li, Weiwei Chen, Reid R Heffner, Georgirene D Vladutiu
BACKGROUND: Statins have well-known benefits in the prevention of cardiovascular disease, however, 7-29% of patients develop muscle side effects and up to 0.5% develop severe symptoms. Mitochondrial dysfunction has been associated with severe statin-induced myopathy (SM); however, there is a paucity of systematic studies in affected individuals. OBJECTIVES: The goal of this study was to combine clinical and laboratory features with quantitative biochemical and histopathologic studies of skeletal muscle biopsies from SM cases to determine what proportion could be attributed to mitochondrial dysfunction and how many of these had primary respiratory chain defects...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28265479/clinical-analysis-of-algerian-patients-with-pompe-disease
#16
Y Sifi, M Medjroubi, R Froissart, N Taghane, K Sifi, A Benhabiles, S Lemai, S Semra, H Benmekhebi, Z Bouderda, N Abadi, A Hamri
Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe's disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of them die within the first year of life from cardiac and/or respiratory failure...
2017: Journal of Neurodegenerative Diseases
https://www.readbyqxmd.com/read/28257284/pharmacogenomics-and-tailored-polypharmacy-an-80-year-old-lady-with-rosuvastatin-associated-rhabdomyolysis-and-maprotiline-related-ogilvie-s-syndrome%C3%A2
#17
Katherina B Sreter, Blazenka Barisic, Sanja Popovic-Grle
What is known and objectives: Multiple adverse drug reactions (ADRs) are expected, and thus should be prevented in the elderly comorbid patient on polypharmacy. Rosuvastatin is commonly prescribed for the treatment and prevention of atherosclerotic diseases, and in rare cases, is associated with rhabdomyolysis. Maprotiline is a tetracyclic antidepressant, infrequently used in the United States, but seemingly more broadly in European countries. Acute colonic pseudo-obstruction (Ogilvie's syndrome) caused by maprotiline has thus far, to our knowledge, not yet been described in the literature...
March 3, 2017: International Journal of Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28240307/new-targets-to-alleviate-skeletal-muscle-inflammation-role-of-micrornas-regulated-by-adiponectin
#18
Raphaël Boursereau, Michel Abou-Samra, Sophie Lecompte, Laurence Noel, Sonia M Brichard
Muscle inflammation worsens metabolic disorders as well as devastating myopathies. The hormone adiponectin (ApN) has emerged has a master regulator of inflammation/immunity in several tissues including the skeletal muscle. In this work, we explore whether microRNAs regulated by ApN may represent novel mechanisms for controlling muscle inflammation. By screening arrays, we found miR-711 as a strong candidate for mediating ApN action. Thus, ApN-knockout mice showed decreased muscular expression of miR-711 together with enhanced inflammation/oxidative stress markers, while mice overexpressing ApN showed increased miR-711 levels...
February 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#19
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28196853/impaired-cardiac-and-skeletal-muscle-bioenergetics-in-children-adolescents-and-young-adults-with-barth-syndrome
#20
Adil Bashir, Kathryn L Bohnert, Dominic N Reeds, Linda R Peterson, Adam J Bittel, Lisa de Las Fuentes, Christina A Pacak, Barry J Byrne, W Todd Cade
Barth syndrome (BTHS) is an X-linked condition characterized by altered cardiolipin metabolism and cardioskeletal myopathy. We sought to compare cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with BTHS and unaffected controls and examine their relationships with cardiac function and exercise capacity. Children/adolescents and young adults with BTHS (n = 20) and children/adolescent and young adult control participants (n = 23, total n = 43) underwent (31)P magnetic resonance spectroscopy ((31)P-MRS) of the lower extremity (calf) and heart for estimation of skeletal muscle and cardiac bioenergetics...
February 2017: Physiological Reports
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