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Muscular hypertrophy

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https://www.readbyqxmd.com/read/28434908/duchenne-muscular-dystrophy-in-a-female-with-compound-heterozygous-contiguous-exon-deletions
#1
Eri Takeshita, Narihiro Minami, Kumiko Minami, Mikiya Suzuki, Takeya Awashima, Akihiko Ishiyama, Hirofumi Komaki, Ichizo Nishino, Masayuki Sasaki
Females with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms for symptoms associated with DMD and BMD in females have been reported. We report the case of a female DMD patient with a clinical course indistinguishable from that of a male DMD patient, and who possessed compound heterozygous contiguous exon deletions in the dystrophin gene. She exhibited Gowers' sign, calf muscle hypertrophy, and a high serum creatine kinase level at 2 years...
April 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28433477/novel-mutations-in-the-c-terminal-region-of-gmppb-causing-limb-girdle-muscular-dystrophy-overlapping-with-congenital-myasthenic-syndrome
#2
Sushan Luo, Shuang Cai, Susan Maxwell, Dongyue Yue, Wenhua Zhu, Kai Qiao, Zhen Zhu, Lei Zhou, Jianying Xi, Jiahong Lu, David Beeson, Chongbo Zhao
Mutations in the GMPPB gene may underlie both limb girdle muscular dystrophy (LGMD) and congenital myasthenic syndrome (CMS). Forty-one cases have been reported to date and hotspot mutations are emerging in the Caucasian population. Clinical and pathological features of 5 patients with compound heterozygous GMPPB mutations were collected and retrospectively reviewed. In vitro functional analysis was performed to investigate the pathogeneity of GMPPB variants. The patients presented with proximal limb weakness in their first to second decades...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28401310/the-efficacy-of-periodised-resistance-training-on-neuromuscular-adaptation-in-older-adults
#3
Jenny A Conlon, Robert U Newton, James J Tufano, Luis E Peñailillo, Harry G Banyard, Amanda J Hopper, Ashley J Ridge, G Gregory Haff
PURPOSE: This study compared the effect of periodised versus non-periodised (NP) resistance training on neuromuscular adaptions in older adults. METHODS: Forty-one apparently healthy untrained older adults (female = 21, male = 20; 70.9 ± 5.1 years; 166.3 ± 8.2 cm; 72.9 ± 13.4 kg) were recruited and randomly stratified to an NP, block periodised (BP), or daily undulating periodised (DUP) training group. Outcome measures were assessed at baseline and following a 22-week resistance training intervention (3 day week(-1)), including: muscle cross-sectional area (CSA), vertical jump performance, isometric and isokinetic peak torque, isometric rate of force development (RFD), and muscle activation...
April 11, 2017: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/28362982/morphology-and-muscle-gene-expression-in-gift-and-supreme-nile-tilapia-varieties-reared-in-two-cultivation-systems
#4
E C S Lima, J A Povh, R A A Otonel, J H Leonhardt, A A Alfieri, S A Headley, F P Souza, A R Poveda-Parra, P J Furlan-Murari, N M Lopera-Barrero
Tissue growth in most fishes occurs by muscular hyperplasia and hypertrophy, which are influenced by different regulatory factors, such as myostatin. The current study evaluated the influence of cultivation in hapas and earthen ponds on the diameter of white muscle fibers and on the myostatin (MSTN-1) gene in GIFT and Supreme varieties of tilapia. Fish of both varieties were reared for 204 days and then divided into four developmental stages. White muscle samples, corresponding to 100 fibers per slide, were collected from the middle region of fish of each variety and cultivation system, and were measured and divided into two classes representing hyperplasia and hypertrophy...
March 16, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28361925/follistatin-like-1-protects-against-hypoxia-induced-pulmonary-hypertension-in-mice
#5
Wei Zhang, Wang Wang, Jie Liu, Jinna Li, Juan Wang, Yunxia Zhang, Zhifei Zhang, Yafei Liu, Yankun Jin, Jifeng Li, Jie Cao, Chen Wang, Wen Ning, Jun Wang
Pulmonary hypertension (PH) remains a life-limiting disease characterized by pulmonary vascular remodelling due to aberrant proliferation and migration of pulmonary artery smooth muscle cells (PASMCs), thus leading to raised pulmonary arterial pressure and right ventricular hypertrophy. Secreted glycoprotein follistatin-like 1 (FSTL1) has been reported to ameliorate tissue remodelling in cardiovascular injuries. However, the role of FSTL1 in deranged pulmonary arteries remains elusive. We found that there were higher serum levels of FSTL1 in patients with PH related to chronic obstructive pulmonary diseases (COPD) and in mice model of hypoxia-induced PH (HPH)...
March 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28344760/severe-pulmonary-hypertension-in-aging-female-apolipoprotein-e-deficient-mice-is-rescued-by-estrogen-replacement-therapy
#6
Soban Umar, Rod Partow-Navid, Gregoire Ruffenach, Andrea Iorga, Shayan Moazeni, Mansoureh Eghbali
BACKGROUND: Apolipoprotein E (ApoE) is a multifunctional protein, and its deficiency leads to the development of atherosclerosis in mice. Patients with pulmonary hypertension (PH) have reduced expression of ApoE in lung tissue. ApoE is known to inhibit endothelial and smooth muscle cell proliferation and has anti-inflammatory and anti-platelet aggregation properties. Young ApoE-deficient mice have been shown to develop PH on high fat diet. The combined role of female sex and aging in the development of PH has not been investigated before...
2017: Biology of Sex Differences
https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#7
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333717/effect-of-resistance-exercise-on-muscle-metabolism-and-autophagy-in-sibm
#8
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/28328712/resistance-training-induced-elevations-in-muscular-strength-in-trained-men-are-maintained-after-2-weeks-of-detraining-and-not-differentially-affected-by-whey-protein-supplementation
#9
Paul S Hwang, Thomas L Andre, Sarah K McKinley-Barnard, Flor E Morales Marroquín, Joshua J Gann, Joon J Song, Darryn S Willoughby
Hwang, PS, Andre, TL, McKinley-Barnard, SK, Morales Marroquín, FE, Gann, JJ, Song, JJ, and Willoughby, DS. Resistance training-induced elevations in muscular strength in trained men are maintained after 2 weeks of detraining and not differentially affected by whey protein supplementation. J Strength Cond Res 31(4): 869-881, 2017-Resistance training (RT) with nutritional strategies incorporating whey protein intake postexercise can stimulate muscle protein synthesis and elicit hypertrophy. The early phases of training-induced anabolic responses can be attenuated with longer-term training...
April 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28315193/resistance-training-using-different-hypoxic-training-strategies-a-basis-for-hypertrophy-and-muscle-power-development
#10
REVIEW
Belén Feriche, Amador García-Ramos, Antonio J Morales-Artacho, Paulino Padial
The possible muscular strength, hypertrophy, and muscle power benefits of resistance training under environmental conditions of hypoxia are currently being investigated.Nowadays, resistance training in hypoxia constitutes a promising new training strategy for strength and muscle gains. The main mechanisms responsible for these effects seem to be related to increased metabolite accumulation due to hypoxia. However, no data are reported in the literature to describe and compare the efficacy of the different hypertrophic resistance training strategies in hypoxia...
December 2017: Sports Medicine—Open
https://www.readbyqxmd.com/read/28289716/muscular-dystrophy-in-ptfr-cavin-1-null-mice
#11
Shi-Ying Ding, Libin Liu, Paul F Pilch
ice and humans lacking the caveolae component polymerase I transcription release factor (PTRF, also known as cavin-1) exhibit lipo- and muscular dystrophy. Here we describe the molecular features underlying the muscle phenotype for PTRF/cavin-1 null mice. These animals had a decreased ability to exercise, and exhibited muscle hypertrophy with increased muscle fiber size and muscle mass due, in part, to constitutive activation of the Akt pathway. Their muscles were fibrotic and exhibited impaired membrane integrity accompanied by an apparent compensatory activation of the dystrophin-glycoprotein complex along with elevated expression of proteins involved in muscle repair function...
March 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28287603/shunt-surgery-right-heart-catheterization-and-vascular-morphometry-in-a-rat-model-for-flow-induced-pulmonary-arterial-hypertension
#12
Diederik E van der Feen, Michel Weij, Annemieke Smit-van Oosten, Lysanne M Jorna, Quint A J Hagdorn, Beatrijs Bartelds, Rolf M F Berger
In this protocol, PAH is induced by combining a 60 mg/kg monocrotalin (MCT) injection with increased pulmonary blood flow through an aorto-caval shunt (MCT+Flow). The shunt is created by inserting an 18-G needle from the abdominal aorta into the adjacent caval vein. Increased pulmonary flow has been demonstrated as an essential trigger for a severe form of PAH with distinct phases of disease progression, characterized by early medial hypertrophy followed by neointimal lesions and the progressive occlusion of the small pulmonary vessels...
February 11, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28281528/lnc-mg-is-a-long-non-coding-rna-that-promotes-myogenesis
#13
Mu Zhu, Jiafan Liu, Jia Xiao, Li Yang, Mingxiang Cai, Hongyu Shen, Xiaojia Chen, Yi Ma, Sumin Hu, Zuolin Wang, An Hong, Yingxian Li, Yao Sun, Xiaogang Wang
Recent studies indicate important roles for long noncoding RNAs (lncRNAs) as essential regulators of myogenesis and adult skeletal muscle regeneration. However, the specific roles of lncRNAs in myogenic differentiation of adult skeletal muscle stem cells and myogenesis are still largely unknown. Here we identify a lncRNA that is specifically enriched in skeletal muscle (myogenesis-associated lncRNA, in short, lnc-mg). In mice, conditional knockout of lnc-mg in skeletal muscle results in muscle atrophy and the loss of muscular endurance during exercise...
March 10, 2017: Nature Communications
https://www.readbyqxmd.com/read/28258105/effect-of-%C3%AE-7-nicotinic-acetylcholine-receptor-activation-on-cardiac-fibroblasts-a-mechanism-underlying-rv-fibrosis-associated-with-cigarette-smoke-exposure
#14
Alexander Vang, Richard T Clements, Havovi Chichger, Nouaying Kue, Ayed Allawzi, Kelly A O'Connell, Euy-Myoung Jeong, Samuel Dudley, Pavlo Sakhatskyy, Qing Lu, Peng Zhang, Sharon Rounds, Gaurav Choudhary
INTRODUCTION: Right ventricular dysfunction is associated with numerous smoking-related illnesses including chronic obstructive pulmonary disease (COPD) where it is present even in absence of pulmonary hypertension. It is unknown if exposure to cigarette smoke has direct effects on RV function and cardiac fibroblast proliferation or collagen synthesis. In this study, we evaluated cardiac function and fibrosis in mice exposed to cigarette smoke (CS) and determined mechanisms of smoke-induced changes in cardiac fibroblast signaling and fibrosis...
March 3, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28247318/a-rare-subclinical-or-mild-type-of-becker-muscular-dystrophy-caused-by-a-single-exon-48-deletion-of-the-dystrophin-gene
#15
Janusz G Zimowski, Jacek Pilch, Magdalena Pawelec, Joanna K Purzycka, Jolanta Kubalska, Karolina Ziora-Jakutowicz, Magdalena Dudzińska, Jacek Zaremba
In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous families with 17 male individuals carrying a rare mutation-a single exon 48 deletion of the dystrophin gene-who were affected with a very mild or subclinical form of BMD. They were usually detected thanks to accidental findings of elevated serum creatine phosphokinase (sCPK). A thorough clinical analysis of the carriers, both children (12) and adults (5), revealed in some of them muscle hypotonia (10/17) and/or very mild muscle weakness (9/17), as well as decreased tendon reflexes (6/17)...
February 28, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28246113/disseminated-cysticercosis-incidentally-diagnosed-in-a-patient-of-fracture-shaft-of-femur
#16
Noora Saeed, Aaliya Ehsan, Shaista M Vasenwala
Cysticercosis is caused by the larval form of Taenia solium tape worm, cysticercus cellulose. The life cycle of T. solium consists of 2 host, the definite host is a man who harbours the adult forms of the worm in the intestine, while the intermediate host is the pig, where the larval form (cysticercus cellulose) is found in the skeletal muscle. Cysticercosis develops when human beings incidentally become the intermediate host and the eggs mature within their small intestine. The route of entry of the eggs into the human intestine may occur through autoinfection or by ingestion of contaminated food or water...
February 28, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28214267/a-japanese-male-with-a-novel-ano5-mutation-with-minimal-muscle-weakness-and-muscle-pain-till-his-late-fifties
#17
Masato Kadoya, Katsuhisa Ogata, Mikiya Suzuki, Yutaka Honma, Kazunari Momma, Kana Yatabe, Takuhisa Tamura, Kenichi Kaida, Naomasa Miyata, Ichizo Nishino, Ikuya Nonaka, Mitsuru Kawai
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe. We report the case of a Japanese male patient with a novel homozygous mutation of c.2394dup, p.Arg799Thrfs in ANO5 gene, the second patient in the Asian population. He had had marked elevation of creatine kinase (CK) level for more than 10 years with minimal muscular symptoms consisting of muscle stiffness and occasional cramps, preceding the onset of proximal limb weakness...
May 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28213823/long-term-resistance-exercise-induced-muscular-hypertrophy-is-associated-with-autophagy-modulation-in-rats
#18
Insu Kwon, Yongchul Jang, Joon-Yong Cho, Young C Jang, Youngil Lee
Elevation of anabolism and concurrent suppression of catabolism are critical metabolic adaptations for muscular hypertrophy in response to resistance exercise (RE). Here, we investigated if RE-induced muscular hypertrophy is acquired by modulating a critical catabolic process autophagy. Male Wistar Hannover rats (14 weeks old) were randomly assigned to either sedentary control (SC, n = 10) or resistance exercise (RE, n = 10). RE elicited significant hypertrophy of flexor digitorum profundus (FDP) muscles in parallel with enhancement in anabolic signaling pathways (phosphorylation of AKT, mTOR, and p70S6K)...
February 17, 2017: Journal of Physiological Sciences: JPS
https://www.readbyqxmd.com/read/28165252/cocktail-of-superoxide-dismutase-and-fasudil-encapsulated-in-targeted-liposomes-slows-pah-progression-at-a-reduced-dosing-frequency
#19
Nilesh Gupta, Jahidur Rashid, Eva Nozik-Grayck, Ivan F McMurtry, Kurt R Stenmark, Fakhrul Ahsan
Currently, two or more pulmonary vasodilators are used to treat pulmonary arterial hypertension (PAH), but conventional vasodilators alone cannot reverse disease progression. In this study, we tested the hypothesis that a combination therapy comprising a vasodilator plus a therapeutic agent that slows pulmonary arterial remodeling and right heart hypertrophy is an efficacious alternative to current vasodilator-based PAH therapy. Thus, we encapsulated a cocktail of superoxide dismutase (SOD), a superoxide scavenger, and fasudil, a specific rho-kinase inhibitor, into a liposomal formulation equipped with a homing peptide, CAR...
March 6, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28155605/met-activating-genetically-improved-chimeric-factor-1-promotes-angiogenesis-and-hypertrophy-in-adult-myogenesis
#20
Flavio Ronzoni, Gabriele Ceccarelli, Ilaria Perini, Laura Benedetti, Daniela Galli, Francesca Mulas, Martina Balli, Giovanni Magenes, Riccardo Bellazzi, Gabriella Cusella De Angelis, Maurilio Sampaolesi
BACKGROUND: Myogenic progenitor cells (activated satellite cells) are able to express both HGF and its receptor cMet. After muscle injury, HGF-Met stimulation promotes activation and primary division of satellite cells. MAGIC-F1 (Met-Activating Genetically Improved Chimeric Factor-1) is an engineered protein that contains two human Met-binding domains that promotes muscle hypertrophy. MAGIC-F1 protects myogenic precursors against apoptosis and increases their fusion ability enhancing muscle differentiation...
February 1, 2017: Current Pharmaceutical Biotechnology
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