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Creatine deficiency

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https://www.readbyqxmd.com/read/29236952/impaired-cardiac-contractile-function-in-agat-knockout-mice-devoid-of-creatine-is-rescued-by-homoarginine-but-not-creatine
#1
Kiterie M E Faller, Dorothee Atzler, Debra J McAndrew, Sevasti Zervou, Hannah J Whittington, Jillian N Simon, Dunja Aksentijevic, Michiel Ten Hove, Chi-Un Choe, Dirk Isbrandt, Barbara Casadei, Jurgen E Schneider, Stefan Neubauer, Craig A Lygate
Aims: Creatine buffers cellular ATP via the creatine kinase reaction. Creatine levels are reduced in heart failure, but their contribution to pathophysiology is unclear. Arginine:glycine amidinotransferase (AGAT) in the kidney catalyses both the first step in creatine biosynthesis as well as homoarginine synthesis. AGAT-/- mice fed a creatine-free diet have a whole body creatine-deficiency. We hypothesised that AGAT-/- mice would develop cardiac dysfunction and rescue by dietary creatine would imply causality...
December 11, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/29229397/di-acetyl-creatine-ethyl-ester-a-new-creatine-derivative-for-the-possible-treatment-of-creatine-transporter-deficiency
#2
Enrico Adriano, Maurizio Gulino, Maria Arkel, Annalisa Salis, Gianluca Damonte, Nara Liessi, Enrico Millo, Patrizia Garbati, Maurizio Balestrino
Creatine is pivotal in energy metabolism of the brain. In primary creatine deficiency syndromes, creatine is missing from the brain. Two of them (AGAT and GAMT deficiency) are due to impaired creatine synthesis, and can be treated by creatine supplementation. By contrast, creatine transporter deficiency cannot be treated by such supplementation, since creatine crossing of biological membranes (plasma membrane and blood-brain barrier) is dependent on its transporter. This problem might be overcome by modifying the creatine molecule to allow it to cross biological membranes independently of its transporter...
December 8, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29209878/cell-type-specific-spatiotemporal-expression-of-creatine-biosynthetic-enzyme-s-adenosylmethionine-guanidinoacetate-n-methyltransferase-in-developing-mouse-brain
#3
Masanori Tachikawa, Masahiko Watanabe, Masahiro Fukaya, Kazuhisa Sakai, Tetsuya Terasaki, Ken-Ichi Hosoya
Creatine is synthesized by S-adenosylmethionine:guanidinoacetate N-methyltransferase (GAMT), and the creatine/phosphocreatine shuttle system mediated by creatine kinase (CK) is essential for storage and regeneration of high-energy phosphates in cells. Although the importance of this system in brain development is evidenced by the hereditary nature of creatine deficiency syndrome, the spatiotemporal cellular expression patterns of GAMT in developing brain remain unknown. Here we show that two waves of high GAMT expression occur in developing mouse brain...
December 5, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/29149851/identification-of-gaa-variants-through-whole-exome-sequencing-targeted-to-a-cohort-of-606-patients-with-unexplained-limb-girdle-muscle-weakness
#4
Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G MacArthur, Volker Straub
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blood spot test when Pompe disease is suspected. Like several neuromuscular disorders, Pompe disease typically presents with progressive weakness of limb-girdle muscles and respiratory insufficiency...
November 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29122890/microrna-30c-reduces-plasma-cholesterol-in-homozygous-familial-hypercholesterolemic-and-type-2-diabetic-mouse-models
#5
Sara Irani, Jahangir Iqbal, W James Antoni, Laraib Ijaz, M Mahmood Hussain
High plasma cholesterol levels are found in several metabolic disorders and their reductions are advocated to reduce risk of atherosclerosis. A way to lower plasma lipids is to curtail lipoprotein production; however, this is associated with steatosis. We previously showed that microRNA-30c (miR-30c) lowers diet-induced hypercholesterolemia and atherosclerosis in C57BL/6J and Apoe-/- mice. Here, we tested miR-30c effect on plasma lipids, transaminases and hepatic lipids in different mouse models. Hepatic delivery of miR-30c to chow fed leptin deficient (ob/ob) and leptin receptor deficient (db/db) hypercholesterolemic and hyperglycemic mice reduced cholesterol in total plasma and VLDL/LDL by ~28% and ~25%, respectively, without affecting triglyceride and glucose levels...
November 9, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/29078808/treatment-with-the-anti-il-6-receptor-antibody-attenuates-muscular-dystrophy-via-promoting-skeletal-muscle-regeneration-in-dystrophin-utrophin-deficient-mice
#6
Eiji Wada, Jun Tanihata, Akira Iwamura, Shin'ichi Takeda, Yukiko K Hayashi, Ryoichi Matsuda
BACKGROUND: Chronic increases in the levels of the inflammatory cytokine interleukin-6 (IL-6) in serum and skeletal muscle are thought to contribute to the progression of muscular dystrophy. Dystrophin/utrophin double-knockout (dKO) mice develop a more severe and progressive muscular dystrophy than the mdx mice, the most common murine model of Duchenne muscular dystrophy (DMD). In particular, dKO mice have smaller body sizes and muscle diameters, and develop progressive kyphosis and fibrosis in skeletal and cardiac muscles...
October 27, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/29046207/-clinical-characteristics-and-gaa-gene-mutation-in-children-with-glycogen-storage-disease-type-ii-an-analysis-of-3-cases
#7
Shan Yuan, Jie Jiang, Lu-Ting Zha, Zuo-Cheng Yang
Glycogen storage disease type II (GSD II) is an autosomal recessive disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA) and can affect multiple systems including the heart and skeletal muscle. The aim of this study was to investigate three children with GSD II confirmed by GAA gene analysis and to report their clinical characteristics and gene mutations. One case was classified as infantile-onset GSD II, and two cases as late-onset GSD II. The infantile-onset patient (aged 4 months) showed no weight increase and had dyspnea, muscle hypotonia, and increased alanine aminotransferase and creatine kinase; echocardiography showed hypertrophic cardiomyopathy...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28971744/benefits-and-drawbacks-of-guanidinoacetic-acid-as-a-possible-treatment-to-replenish-cerebral-creatine-in-agat-deficiency
#8
Sergej M Ostojic
Arginine-glycine amidinotransferase (AGAT) deficiency is a rare inherited metabolic disorder that severely affects brain bioenergetics. Characterized by mental retardation, language impairment, and behavioral disorders, AGAT deficiency is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves its clinical features. In some cases of AGAT deficiency, creatine treatment might be somewhat limited due to possible shortcomings in performance and transport of creatine to the brain...
October 3, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28961344/investigation-of-the-contribution-of-total-creatine-to-the-cest-z-spectrum-of-brain-using-a-knockout-mouse-model
#9
Lin Chen, Haifeng Zeng, Xiang Xu, Nirbhay N Yadav, Shuhui Cai, Nicolaas A Puts, Peter B Barker, Tong Li, Robert G Weiss, Peter C M van Zijl, Jiadi Xu
The current study aims to assign and estimate the total creatine (tCr) signal contribution to the Z-spectrum in mouse brain at 11.7 T. Creatine (Cr), phosphocreatine (PCr) and protein phantoms were used to confirm the presence of a guanidinium resonance at this field strength. Wild-type (WT) and knockout mice with guanidinoacetate N-methyltransferase deficiency (GAMT-/-), which have low Cr and PCr concentrations in the brain, were used to assign the tCr contribution to the Z-spectrum. To estimate the total guanidinium concentrations, two pools for the Z-spectrum around 2 ppm were assumed: (i) a Lorentzian function representing the guanidinium chemical exchange saturation transfer (CEST) at 1...
December 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28916380/roles-of-amino-acid-residues-h66-and-d326-in-the-creatine-kinase-activity-and-structural-stability
#10
Qing-Yun Wu, Fang Wei, Yuan-Yuan Zhu, Yu-Xue Tong, Jiang Cao, Ping Zhou, Zhen-Yu Li, Ling-Yu Zeng, Feng Li, Xiao-Yun Wang, Kai-Lin Xu
Creatine kinase (CK) is a key enzyme for cellular energy metabolism, catalyzing the reversible phosphoryl transfer from phosphocreatine to ADP in vertebrates. CK contains a pair of highly conserved amino acids (H66 and D326) which might play an important role in sustaining the compact structure of CK by linking its N- and C- terminal domains; however the mechanism is still unclear. In this study, spectroscopic, structural modeling and protein folding experiments suggested that D326A, H66P and H66P/D326A mutations led to disruption of the hydrogen bond between those two amino acid residues and form the partially unfolded state which made it easier to be inactivated and unfolded under environmental stresses, and more prone to form insoluble aggregates...
September 12, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28914566/a-novel-etfdh-mutation-in-an-adult-patient-with-late-onset-riboflavin-responsive-multiple-acyl-coa-dehydrogenase-deficiency
#11
Min Chen, Jing Peng, Wei Wei, Wang, Hongliang Xu, Hongbo Liu
We report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by muscle weakness and hypoglycemia as main clinical presentation. At the age of 34 years, the patient experienced progressive muscle weakness and short of breath. Blood creatine kinase level was significantly higher than normal. The blood glucose was significantly lower than normal. The muscle biopsy revealed lipid storage myopathy...
September 15, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28901216/creatine-or-vitamin-d-supplementation-in-individuals-with-a-spinal-cord-injury-undergoing-resistance-training-a-double-blinded-randomized-pilot-trial
#12
Samuel Amorim, Vitor Hugo Teixeira, Rui Corredeira, Maria Cunha, Bruno Maia, Paulo Margalho, Joana Pires
Purpose Determine whether creatine or vitamin D supplementation improves muscle strength in individuals with spinal cord injury undergoing resistance training. Methods Thirteen male and one female with spinal cord injury, from two Portuguese rehabilitation centers, were randomized to creatine (3g daily), vitamin D (25000 IU each two weeks) or placebo group in a double-blind design. All participants performed progressive resistance training during eight weeks. The outcome measures, obtained at baseline and after intervention, included: Sum of four skinfolds; Corrected arm muscle area; Seated medicine ball throw; Handgrip strength with dynamometer; Manual wheelchair slalom test and one repetition maximum for Chest press, Triceps, Pec deck and Lat pulldown...
September 13, 2017: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/28899419/increased-plasma-lipid-levels-exacerbate-muscle-pathology-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#13
Nadia Milad, Zoe White, Arash Y Tehrani, Stephanie Sellers, Fabio M V Rossi, Pascal Bernatchez
BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin expression and leads to severe ambulatory and cardiac function decline. However, the dystrophin-deficient mdx murine model of DMD only develops a very mild form of the disease. Our group and others have shown vascular abnormalities in animal models of MD, a likely consequence of the fact that blood vessels express the same dystrophin-associated glycoprotein complex (DGC) proteins as skeletal muscles. METHODS: To test the blood vessel contribution to muscle damage in DMD, mdx (4cv) mice were given elevated lipid levels via apolipoprotein E (ApoE) gene knockout combined with normal chow or lipid-rich Western diets...
September 12, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28812460/myopathic-mtdna-depletion-syndrome-due-to-mutation-in-tk2-gene
#14
Elena Martín-Hernández, María Teresa García-Silva, Pilar Quijada-Fraile, María Elena Rodríguez-García, Henry Rivera, Aurelio Hernández-Laín, David Coca-Robinot, Joaquín Fernández-Toral, Joaquín Arenas, Miguel A Martín, Francisco Martínez-Azorín
Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM_004614.4:c.323 C>T, p.T108M)...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28810230/a-novel-hydrophilic-interaction-liquid-chromatography-method-for-the-determination-of-underivatized-amino-acids-in-alimentary-supplements
#15
Thomas Themelis, Roberto Gotti, Rita Gatti
Amino acids playing important roles in metabolic processes are often included in dietary supplements whose use has largely expanded over the last 20 years not only in patients with particular deficiencies, but also in athletes and even common people that want to enrich their regular daily diet. In the present study, a bare silica Kinetex core-shell 2.6μm HILIC column was used for separation of some important hydrophilic amino acids and amino acids-like molecules i.e., aspartic acid, creatine, carnitine, arginine and the tripeptide glutathione (GSH), by optimizing the chromatographic conditions for their determination in complex alimentary supplements...
October 25, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28808834/biochemical-and-behavioral-phenotype-of-agat-and-gamt-deficient-mice-following-long-term-creatine-monohydrate-supplementation
#16
Furhan Iqbal, Herald Hoeger, Gurt Lubec, Olaf Bodamer
The creatine/phosphocreatine system is essential for cellular phosphate coupled energy storage and production. We investigated the utility of creatine monohydrate supplementation in two different creatine deficient knockout mouse models. Following weaning, female Arginine: Glycine Amidinotransferase (AGAT) and Guanidinoacetate: methyltransferase (GAMT) knockouts and wild type mice were studied based on their genotypes and dietary supplementation (creatine free or 2% creatine monohydrate supplemented diet) for 10 weeks, using a series of behavioral tests and biochemical analyzes...
December 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28807458/caveolin-3-deficiency-myopathy-associated-with-dyslipidemia-treatment-challenges-and-possible-pathophysiological-association
#17
Daiana Ibarretxe, Joan Pellejà, Nicolau Ortiz, Luis Masana
We report the case of a patient treated at the lipid clinic because of high cholesterol levels with consistently elevated creatine kinase concentrations that precluded statin treatment. Electromyography showed a rippling muscle disease pattern. A muscle biopsy confirmed caveolin 3 deficiency, and a missense mutation in the CAV3 gene was identified. The patient could be properly managed with ezetimibe and cholestyramine, which reduced the low-density lipoprotein cholesterol by 30%. He remains asymptomatic after 10 years of follow-up...
September 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28804634/muscle-mri-findings-in-a-one-year-old-girl-with-merosin-deficient-congenital-muscular-dystrophy-type-1a-due-to-lama2-mutation-a-case-report
#18
Yingyin Liang, Guidian Li, Songlin Chen, Rongxing He, Xiangxue Zhou, Yingming Chen, Xue Xu, Ronglan Zhu, Cheng Zhang
The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the Cornu posterius of the ventricular lateral...
August 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28802038/trem2-maintains-microglial-metabolic-fitness-in-alzheimer-s-disease
#19
Tyler K Ulland, Wilbur M Song, Stanley Ching-Cheng Huang, Jason D Ulrich, Alexey Sergushichev, Wandy L Beatty, Alexander A Loboda, Yingyue Zhou, Nigel J Cairns, Amal Kambal, Ekaterina Loginicheva, Susan Gilfillan, Marina Cella, Herbert W Virgin, Emil R Unanue, Yaming Wang, Maxim N Artyomov, David M Holtzman, Marco Colonna
Elevated risk of developing Alzheimer's disease (AD) is associated with hypomorphic variants of TREM2, a surface receptor required for microglial responses to neurodegeneration, including proliferation, survival, clustering, and phagocytosis. How TREM2 promotes such diverse responses is unknown. Here, we find that microglia in AD patients carrying TREM2 risk variants and TREM2-deficient mice with AD-like pathology have abundant autophagic vesicles, as do TREM2-deficient macrophages under growth-factor limitation or endoplasmic reticulum (ER) stress...
August 10, 2017: Cell
https://www.readbyqxmd.com/read/28792616/proteomic-profiling-of-liver-and-plasma-in-chronic-ethanol-feeding-model-of-hepatic-alcohol-dehydrogenase-deficient-deer-mice
#20
Kamlesh K Bhopale, Samir M Amer, Lata Kaphalia, Kizhake V Soman, John E Wiktorowicz, Ghulam A Shakeel Ansari, Bhupendra S Kaphalia
BACKGROUND: Chronic alcohol abuse, a major risk factor for such diseases as hepatitis and cirrhosis, impairs hepatic alcohol dehydrogenase (ADH; key ethanol [EtOH]-metabolizing enzyme). Therefore, differentially altered hepatic and plasma proteomes were identified in chronic EtOH feeding model of hepatic ADH-deficient (ADH(-) ) deer mice to understand the metabolic basis of alcoholic liver disease (ALD). METHODS: ADH(-) deer mice were fed 3.5 g% EtOH via Lieber-DeCarli liquid diet daily for 3 months and histology of the liver assessed...
October 2017: Alcoholism, Clinical and Experimental Research
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