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https://www.readbyqxmd.com/read/29731279/a-novel-acta1-mutation-causing-progressive-facioscapuloperoneal-myopathy-in-an-adult
#1
Justin C Kao, Teerin Liewluck, Margherita Milone
We report a 58-year-old woman with slowly progressive facio-scapulo-peroneal muscle weakness due to congenital nemaline myopathy (NM) caused by a novel ACTA1 mutation (c.118A>G, p.Met271Val). In adult patients, congenital NM should be distinguished from sporadic late-onset nemaline myopathy (SLONM), which is a treatable acquired muscle disease often associated with monoclonal gammopathy or HIV infection. Both congenital NM and SLONM are characterized by the presence of nemaline rods in muscle. The patient's clinical history of difficulty running since childhood and weakness in other family members favored a congenital NM...
May 3, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29618024/a-novel-long-non-coding-rna-myolinc-regulates-myogenesis-through-tdp-43-and-filip1
#2
Giuseppe Militello, Mohammed Rabiul Hosen, Yuliya Ponomareva, Pascal Gellert, Tyler Weirick, David John, Sajedah Mahmoud Hindi, Kamel Mamchaoui, Vincent Mouly, Claudia Döring, Lidan Zhang, Miki Nakamura, Ashok Kumar, So-Ichiro Fukada, Stefanie Dimmeler, Shizuka Uchida
Myogenesis is a complex process required for skeletal muscle formation during embryonic development and for regeneration and growth of myofibers in adults. Accumulating evidence suggests that long non-coding RNAs (lncRNAs) play key roles in regulating cell fate decision and function in various tissues. However, the role of lncRNAs in the regulation of myogenesis remains poorly understood. In this study, we identified a novel muscle-enriched lncRNA called "Myolinc (AK142388)", which we functionally characterized in the C2C12 myoblast cell line...
April 3, 2018: Journal of Molecular Cell Biology
https://www.readbyqxmd.com/read/29415061/a-cre-inducible-dux4-transgenic-mouse-model-for-investigating-facioscapulohumeral-muscular-dystrophy
#3
Takako Jones, Peter L Jones
The Double homeobox 4 (DUX4) gene is an important regulator of early human development and its aberrant expression is causal for facioscapulohumeral muscular dystrophy (FSHD). The DUX4-full length (DUX4-fl) mRNA splice isoform encodes a transcriptional activator; however, DUX4 and its unique DNA binding preferences are specific to old-world primates. Regardless, the somatic cytotoxicity caused by DUX4 expression is conserved when expressed in cells and animals ranging from fly to mouse. Thus, viable animal models based on DUX4-fl expression have been difficult to generate due in large part to overt developmental toxicity of low DUX4-fl expression from leaky transgenes...
2018: PloS One
https://www.readbyqxmd.com/read/29355388/muscle-structure-and-gene-expression-in-pectoralis-major-muscle-in-response-to-deep-pectoral-myopathy-induction-in-fast-and-slow-growing-commercial-broilers
#4
S Yalcin, K Şahin, M Tuzcu, G Bilgen, S Özkan, G T Izzetoğlu, R Işik
1. The objective of this study was to determine muscle structure and gene expression in pectoralis major (p. major) muscle of broilers in response to deep pectoral myopathy (DPM) induction. 2. A total of 160 chickens from slow- and fast-growing broilers were raised under same conditions. Half of the broilers from each strain were encouraged to wing flap when they reached 2800 g body weight. Pectoralis minor (p. minor) muscle of the broilers was inspected for the occurrence of DPM and p. major samples were collected from broilers with or without DPM...
February 19, 2018: British Poultry Science
https://www.readbyqxmd.com/read/29328520/dysfunctional-sarcomere-contractility-contributes-to-muscle-weakness-in-acta1-related-nemaline-myopathy-nem3
#5
Barbara Joureau, Josine Marieke de Winter, Stefan Conijn, Sylvia J P Bogaards, Igor Kovacevic, Albert Kalganov, Malin Persson, Johan Lindqvist, Ger J M Stienen, Thomas C Irving, Weikang Ma, Michaela Yuen, Nigel F Clarke, Dilson E Rassier, Edoardo Malfatti, Norma B Romero, Alan H Beggs, Coen A C Ottenheijm
OBJECTIVE: Nemaline myopathy (NM) is one of the most common congenital nondystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (ie, NEM3). ACTA1 encodes alpha-actin 1, the main constituent of the sarcomeric thin filament. The mechanisms by which mutations in ACTA1 contribute to muscle weakness in NEM3 are incompletely understood. We hypothesized that sarcomeric dysfunction contributes to muscle weakness in NEM3 patients...
February 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29289712/proteome-changes-of-beef-in-nellore-cattle-with-different-genotypes-for-tenderness
#6
Alessandra F Rosa, Cristina T Moncau, Mirele D Poleti, Leydiana D Fonseca, Julio C C Balieiro, Saulo L E Silva, Joanir P Eler
In the present study, 155 Nellore cattle were genotyped for the CAPN4751 and UOGCAST polymorphisms and phenotyped for shear force (SF) at 1, 7 and 14days aging. The effects of different genotypic combinations were evaluated on the Longissimus muscle proteomic profile using 2DE and mass spectrometry. A significant association was found between genotypes for UOGCAST and CAPN4751 and meat tenderness. The CC genotype for both markers was favorable for lesser shear force than TT. A total of 40 spots showed significant differential expression profiles (P<0...
April 2018: Meat Science
https://www.readbyqxmd.com/read/29274205/arthrogryposis-and-pterygia-as-lethal-end-manifestations-of-genetically-defined-congenital-myopathies
#7
Atif A Ahmed, Priya Skaria, Nicole P Safina, Isabelle Thiffault, Alex Kats, Eugenio Taboada, Sultan Habeebu, Carol Saunders
Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression. In this report, four fetal or perinatal autopsy cases of arthrogryposis were studied by gross morphology, microscopic histopathologic examination, and whole genome sequencing of postmortem DNA...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29190899/targeting-myocyte-specific-enhancer-factor-2d-contributes-to-the-suppression-of-cardiac-hypertrophic-growth-by-mir-92b-3p-in-mice
#8
Zhi-Qin Hu, Jian-Fang Luo, Xue-Ju Yu, Jie-Ning Zhu, Lei Huang, Jing Yang, Yong-Heng Fu, Tao Li, Yu-Mei Xue, Ying-Qing Feng, Zhi-Xin Shan
The role of microRNA-92b-3p (miR-92b-3p) in cardiac hypertrophy was not well illustrated. The present study aimed to investigate the expression and potential target of miR-92b-3p in angiotensin II (Ang-II)-induced mouse cardiac hypertrophy. MiR-92b-3p was markedly decreased in the myocardium of Ang-II-infused mice and of patients with cardiac hypertrophy. However, miR-92b-3p expression was revealed increased in Ang-II-induced neonatal mouse cardiomyocytes. Cardiac hypertrophy was shown attenuated in Ang-II-infused mice received tail vein injection of miR-92b-3p mimic...
November 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29097185/serum-starvation-of-arpe-19-changes-the-cellular-distribution-of-cholesterol-and-fibulin3-in-patterns-reminiscent-of-age-related-macular-degeneration
#9
Dinusha Rajapakse, Katherine Peterson, Sanghamitra Mishra, Graeme Wistow
Retinal pigment epithelium (RPE) has been implicated as key source of cholesterol-rich deposits at Bruch's membrane (BrM) and in drusen in aging human eye. We have shown that serum-deprivation of confluent RPE cells is associated with upregulation of cholesterol synthesis and accumulation of unesterified cholesterol (UC). Here we investigate the cellular processes involved in this response. We compared the distribution and localization of UC and esterified cholesterol (EC); the age-related macular degeneration (AMD) associated EFEMP1/Fibulin3 (Fib3); and levels of acyl-coenzyme A (CoA): cholesterol acyltransferases (ACAT) ACAT1, ACAT2 and Apolipoprotein B (ApoB) in ARPE-19 cells cultured in serum-supplemented and serum-free media...
December 15, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28794688/aberrantly-methylated-differentially-expressed-genes-and-pathways-in-colorectal-cancer
#10
Jingwei Liu, Hao Li, Liping Sun, Zhenning Wang, Chengzhong Xing, Yuan Yuan
BACKGROUND: Methylation plays an important role in the etiology and pathogenesis of colorectal cancer (CRC). This study aimed to identify aberrantly methylated-differentially expressed genes (DEGs) and pathways in CRC by comprehensive bioinformatics analysis. METHODS: Data of gene expression microarrays (GSE68468, GSE44076) and gene methylation microarrays (GSE29490, GSE17648) were downloaded from GEO database. Aberrantly methylated-DEGs were obtained by GEO2R. Functional and enrichment analyses of selected genes were performed using DAVID database...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/28780987/clinical-and-histologic%C3%A2-findings-in-acta1-related-nemaline-myopathy-case-series-and-review-of-the-literature
#11
REVIEW
Cristiane de Araújo Martins Moreno, Osório Abath Neto, Sandra Donkervoort, Ying Hu, Umbertina Conti Reed, Acary Sousa Bulle Oliveira, Carsten Bönnemann, Edmar Zanoteli
BACKGROUND: Nemaline myopathy is a rare congenital disease of skeletal muscle characterized by muscle weakness and hypotonia, as well as the diagnostic presence of nemaline rods in skeletal muscle fibers. Nemaline myopathy is genetically and phenotypically heterogeneous and, so far, mutations in 11 different genes have been associated with this disease. Dominant mutations in ACTA1 are the second most frequent genetic cause of nemaline myopathy and can lead to a variety of clinical and histologic phenotypes...
April 7, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28740514/normal-versus-pathological-cardiac-fibroblast-derived-extracellular-matrix-differentially-modulates-cardiosphere-derived-cell-paracrine-properties-and-commitment
#12
Francesca Pagano, Francesco Angelini, Clotilde Castaldo, Vittorio Picchio, Elisa Messina, Sebastiano Sciarretta, Ciro Maiello, Giuseppe Biondi-Zoccai, Giacomo Frati, Franca di Meglio, Daria Nurzynska, Isotta Chimenti
Human resident cardiac progenitor cells (CPCs) isolated as cardiosphere-derived cells (CDCs) are under clinical evaluation as a therapeutic product for cardiac regenerative medicine. Unfortunately, limited engraftment and differentiation potential of transplanted cells significantly hamper therapeutic success. Moreover, maladaptive remodelling of the extracellular matrix (ECM) during heart failure progression provides impaired biological and mechanical signals to cardiac cells, including CPCs. In this study, we aimed at investigating the differential effect on the phenotype of human CDCs of cardiac fibroblast-derived ECM substrates from healthy or diseased hearts, named, respectively, normal or pathological cardiogel (CG-N/P)...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28606400/autosomal-dominant-distal-myopathy-due-to-a-novel-acta1-mutation
#13
Teerin Liewluck, Eric J Sorenson, Magdalena A Walkiewicz, Kandelaria M Rumilla, Margherita Milone
Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. Patients typically develop generalized or limb-girdle pattern of weakness, but recently a family with scapuloperoneal myopathy was reported. We describe a father and 2 children with childhood-to-juvenile onset distal myopathy, carrying a novel dominant ACTA1 variant, c.757G>C (p.Gly253Arg). Father had delayed motor development and developed significant proximal weakness later in life; he was initially misdiagnosed as having spinal muscular atrophy based on electromyographic findings...
May 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28582460/admixture-mapping-of-pelvic-organ-prolapse-in-african-americans-from-the-women-s-health-initiative-hormone-therapy-trial
#14
MULTICENTER STUDY
Ayush Giri, Katherine E Hartmann, Melinda C Aldrich, Renee M Ward, Jennifer M Wu, Amy J Park, Mariaelisa Graff, Lihong Qi, Rami Nassir, Robert B Wallace, Mary J O'Sullivan, Kari E North, Digna R Velez Edwards, Todd L Edwards
Evidence suggests European American (EA) women have two- to five-fold increased odds of having pelvic organ prolapse (POP) when compared with African American (AA) women. However, the role of genetic ancestry in relation to POP risk is not clear. Here we evaluate the association between genetic ancestry and POP in AA women from the Women's Health Initiative Hormone Therapy trial. Women with grade 1 or higher classification, and grade 2 or higher classification for uterine prolapse, cystocele or rectocele at baseline or during follow-up were considered to have any POP (N = 805) and moderate/severe POP (N = 156), respectively...
2017: PloS One
https://www.readbyqxmd.com/read/28416349/cytoplasmic-body-pathology-in-severe-acta1-related-myopathy-in-the-absence-of-typical-nemaline-rods
#15
Sandra Donkervoort, Sophelia H S Chan, Leslie H Hayes, Nathaniel Bradley, David Nguyen, Meganne E Leach, Payam Mohassel, Ying Hu, Mathula Thangarajh, Diana Bharucha-Goebel, Amanda Kan, Ronnie S L Ho, Christine A Reyes, Jessica Nance, Steven A Moore, A Reghan Foley, Carsten G Bönnemann
Mutations in ACTA1 cause a group of myopathies with expanding clinical and histopathological heterogeneity. We describe three patients with severe ACTA1-related myopathy who have muscle fiber cytoplasmic bodies but no classic nemaline rods. Patient 1 is a five-year-old boy who presented at birth with severe weakness and respiratory failure, requiring mechanical ventilation. Whole exome sequencing identified a heterozygous c.282C>A (p.Asn94Lys) ACTA1 mutation. Patients 2 and 3 were twin boys with hypotonia, severe weakness, and respiratory insufficiency at birth requiring mechanical ventilation...
June 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28357410/phenotypes-genotypes-and-prevalence-of-congenital-myopathies-older-than-5-years-in-denmark
#16
Nanna Witting, Ulla Werlauff, Morten Duno, John Vissing
OBJECTIVE: Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population. METHODS: A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically. RESULTS: Twenty-five patients were excluded because of atypical features or alternative etiologies...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28017374/biallelic-mutations-in-mypn-encoding-myopalladin-are-associated-with-childhood-onset-slowly-progressive-nemaline-myopathy
#17
Satoko Miyatake, Satomi Mitsuhashi, Yukiko K Hayashi, Enkhsaikhan Purevjav, Atsuko Nishikawa, Eriko Koshimizu, Mikiya Suzuki, Kana Yatabe, Yuzo Tanaka, Katsuhisa Ogata, Satoshi Kuru, Masaaki Shiina, Yoshinori Tsurusaki, Mitsuko Nakashima, Takeshi Mizuguchi, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Mitsuru Kawai, Jeffrey Towbin, Ikuya Nonaka, Ichizo Nishino, Naomichi Matsumoto
Nemaline myopathy (NM) is a common form of congenital nondystrophic skeletal muscle disease characterized by muscular weakness of proximal dominance, hypotonia, and respiratory insufficiency but typically not cardiac dysfunction. Wide variation in severity has been reported. Intranuclear rod myopathy is a subtype of NM in which rod-like bodies are seen in the nucleus, and it often manifests as a severe phenotype. Although ten mutant genes are currently known to be associated with NM, only ACTA1 is associated with intranuclear rod myopathy...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27768722/the-heparan-sulfate-proteoglycan-glypican-6-is-upregulated-in-the-failing-heart-and-regulates-cardiomyocyte-growth-through-erk1-2-signaling
#18
Arne O Melleby, Mari E Strand, Andreas Romaine, Kate M Herum, Biljana Skrbic, Christen P Dahl, Ivar Sjaastad, Arnt E Fiane, Jorge Filmus, Geir Christensen, Ida G Lunde
Pressure overload is a frequent cause of heart failure. Heart failure affects millions of patients worldwide and is a major cause of morbidity and mortality. Cell surface proteoglycans are emerging as molecular players in cardiac remodeling, and increased knowledge about their regulation and function is needed for improved understanding of cardiac pathogenesis. Here we investigated glypicans (GPC1-6), a family of evolutionary conserved heparan sulfate proteoglycans anchored to the extracellular leaflet of the cell membrane, in experimental and clinical heart failure, and explored the function of glypican-6 in cardiac cells in vitro...
2016: PloS One
https://www.readbyqxmd.com/read/27742266/proteomic-analysis-of-mucopolysaccharidosis-i-mouse-brain-with-two-dimensional-polyacrylamide-gel-electrophoresis
#19
Li Ou, Michael J Przybilla, Chester B Whitley
Mucopolysaccharidosis type I (MPS I) is due to deficiency of α-l-iduronidase (IDUA) and subsequent storage of undegraded glycosaminoglycans (GAG). The severe form of the disease, known as Hurler syndrome, is characterized by mental retardation and neurodegeneration of unknown etiology. To identify potential biomarkers and unveil the neuropathology mechanism of MPS I disease, two-dimensional polyacrylamide gel electrophoresis (PAGE) and nanoliquid chromatography-tandem mass spectrometry (nanoLC-MS/MS) were applied to compare proteome profiling of brains from MPS I and control mice (5-month old)...
January 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27696085/transcriptomic-effects-of-adenosine-2a-receptor-deletion-in-healthy-and-endotoxemic-murine-myocardium
#20
Kevin J Ashton, Melissa E Reichelt, S Jamal Mustafa, Bunyen Teng, Catherine Ledent, Lea M D Delbridge, Polly A Hofmann, R Ray Morrison, John P Headrick
Influences of adenosine 2A receptor (A2A R) activity on the cardiac transcriptome and genesis of endotoxemic myocarditis are unclear. We applied transcriptomic profiling (39 K Affymetrix arrays) to identify A2A R-sensitive molecules, revealed by receptor knockout (KO), in healthy and endotoxemic hearts. Baseline cardiac function was unaltered and only 37 A2A R-sensitive genes modified by A2A R KO (≥1.2-fold change, <5 % FDR); the five most induced are Mtr, Ppbp, Chac1, Ctsk and Cnpy2 and the five most repressed are Hp, Yipf4, Acta1, Cidec and Map3k2...
March 2017: Purinergic Signalling
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