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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
#1
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...
October 31, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28794688/aberrantly-methylated-differentially-expressed-genes-and-pathways-in-colorectal-cancer
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
March 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28357410/phenotypes-genotypes-and-prevalence-of-congenital-myopathies-older-than-5-years-in-denmark
#8
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
#9
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
#10
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
#11
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
#12
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 (A2AR) activity on the cardiac transcriptome and genesis of endotoxemic myocarditis are unclear. We applied transcriptomic profiling (39 K Affymetrix arrays) to identify A2AR-sensitive molecules, revealed by receptor knockout (KO), in healthy and endotoxemic hearts. Baseline cardiac function was unaltered and only 37 A2AR-sensitive genes modified by A2AR 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
https://www.readbyqxmd.com/read/27389816/new-aspects-of-myofibrillar-myopathies
#13
Rudolf A Kley, Montse Olivé, Rolf Schröder
PURPOSE OF REVIEW: Myofibrillar myopathies (MFMs) are hereditary muscle disorders characterized by distinct histopathological features. This review provides an overview of recent research with respect to new disease genes, clinical phenotypes, insights into pathomechanisms and therapeutic strategies. RECENT FINDINGS: Beyond the known disease genes DES, FLNC, MYOT, CRYAB, ZASP, BAG3, FHL1 and TTN, mutations in PLEC, ACTA1, HSPB8 and DNAJB6 have also been associated with a MFM phenotype...
October 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27357517/the-de-novo-missense-mutation-n117s-in-skeletal-muscle-%C3%AE-%C3%A2-actin%C3%A2-1-causes-a-mild-form-of-congenital-nemaline-myopathy
#14
REVIEW
Liu Yang, Ping Yu, Xiang Chen, Tao Cai
Nemaline myopathy (NM) constitutes a spectrum of primary skeletal muscle disorders, the diagnosis of which is based on muscle weakness and the visualization of nemaline bodies in muscle biopsies. Mutations in several NM causal genes have been attributed to the majority of NM cases, particularly mutations in nebulin and skeletal muscle α‑actin 1 (ACTA1), which are responsible for ~70% of cases; therefore, a genetic diagnostic strategy using targeted gene sequencing may potentially improve the diagnosis of suspected NM...
August 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27305318/identification-of-differentially-expressed-genes-between-high-and-low-marbling-score-grades-of-the-longissimus-lumborum-muscle-in-hanwoo-korean-cattle
#15
S C Shin, E R Chung
We conducted DD-RT-PCR analysis to identify differentially expressed genes between high and low marbling score groups with extremely different IMF content of the longissimus lumborum muscles in Hanwoo. We detected 137 DEGs between two marbling score groups. Of these DEGs, 41 DEGs were highly expressed in the high marbling score group, whereas 96 DEGs showed a higher expression in the low marbling score group. Among them, we selected eight DEGs exhibiting the greatest differential expression levels between two marbling score groups...
November 2016: Meat Science
https://www.readbyqxmd.com/read/27121343/an-examination-of-the-regulatory-mechanism-of-pxdn-mutation-induced-eye-disorders-using-microarray-analysis
#16
Yang Yang, Yiqiao Xing, Chaoqun Liang, Liya Hu, Fei Xu, Qi Mei
The present study aimed to identify biomarkers for peroxidasin (Pxdn) mutation-induced eye disorders and study the underlying mechanisms involved in this process. The microarray dataset GSE49704 was used, which encompasses 4 mouse samples from embryos with Pxdn mutation and 4 samples from normal tissues. After data preprocessing, the differentially expressed genes (DEGs) between Pxdn mutation and normal tissues were identified using the t-test in the limma package, followed by functional enrichment analysis...
June 2016: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/27112274/myopathy-inducing-mutation-h40y-in-acta1-hampers-actin-filament-structure-and-function
#17
Chun Chan, Jun Fan, Andrew E Messer, Steve B Marston, Hiroyuki Iwamoto, Julien Ochala
In humans, more than 200 missense mutations have been identified in the ACTA1 gene. The exact molecular mechanisms by which, these particular mutations become toxic and lead to muscle weakness and myopathies remain obscure. To address this, here, we performed a molecular dynamics simulation, and we used a broad range of biophysical assays to determine how the lethal and myopathy-related H40Y amino acid substitution in actin affects the structure, stability, and function of this protein. Interestingly, our results showed that H40Y severely disrupts the DNase I-binding-loop structure and actin filaments...
August 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27105866/new-mutations-in-neb-gene-discovered-by-targeted-next-generation-sequencing-in-nemaline-myopathy-italian-patients
#18
Daniela Piga, Francesca Magri, Dario Ronchi, Stefania Corti, Denise Cassandrini, Eugenio Mercuri, Giorgio Tasca, Enrico Bertini, Fabiana Fattori, Antonio Toscano, Sonia Messina, Isabella Moroni, Marina Mora, Maurizio Moggio, Irene Colombo, Teresa Giugliano, Marika Pane, Chiara Fiorillo, Adele D'Amico, Claudio Bruno, Vincenzo Nigro, Nereo Bresolin, Giacomo Pietro Comi
Nemaline myopathy represents a group of clinically and genetically heterogeneous neuromuscular disorders. Different clinical-genetic entities have been characterized in the last few years, with implications for diagnostics and genetic counseling. Fifty percent of nemaline myopathy forms are due to NEB mutations, but genetic analysis of this large and complex gene by Sanger sequencing is time consuming and expensive. We selected 10 Italian patients with clinical and biopsy features suggestive for nemaline myopathy and negative for ACTA1, TPM2 and TPM3 mutations...
July 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27102768/treatment-with-actriib-mfc-produces-myofiber-growth-and-improves-lifespan-in-the-acta1-h40y-murine-model-of-nemaline-myopathy
#19
Jennifer Tinklenberg, Hui Meng, Lin Yang, Fujun Liu, Raymond G Hoffmann, Mahua Dasgupta, Kenneth P Allen, Alan H Beggs, Edna C Hardeman, R Scott Pearsall, Robert H Fitts, Michael W Lawlor
Nemaline myopathies (NMs) are a group of congenital muscle diseases caused by mutations in at least 10 genes and associated with a range of clinical symptoms. NM is defined on muscle biopsy by the presence of cytoplasmic rod-like structures (nemaline rods) composed of cytoskeletal material. Myofiber smallness is also found in many cases of NM and may represent a cause of weakness that can be counteracted by treatment. We have used i.p. injection of activin type IIB receptor (ActRIIB)-mFc (an inhibitor of myostatin signaling) to promote hypertrophy and increase strength in our prior murine work; we therefore tested whether ActRIIB-mFc could improve weakness in NM mice through myofiber hypertrophy...
June 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27074222/mutation-specific-effects-on-thin-filament-length-in-thin-filament-myopathy
#20
Josine M de Winter, Barbara Joureau, Eun-Jeong Lee, Balázs Kiss, Michaela Yuen, Vandana A Gupta, Christopher T Pappas, Carol C Gregorio, Ger J M Stienen, Simon Edvardson, Carina Wallgren-Pettersson, Vilma-Lotta Lehtokari, Katarina Pelin, Edoardo Malfatti, Norma B Romero, Baziel G van Engelen, Nicol C Voermans, Sandra Donkervoort, C G Bönnemann, Nigel F Clarke, Alan H Beggs, Henk Granzier, Coen A C Ottenheijm
OBJECTIVE: Thin filament myopathies are among the most common nondystrophic congenital muscular disorders, and are caused by mutations in genes encoding proteins that are associated with the skeletal muscle thin filament. Mechanisms underlying muscle weakness are poorly understood, but might involve the length of the thin filament, an important determinant of force generation. METHODS: We investigated the sarcomere length-dependence of force, a functional assay that provides insights into the contractile strength of muscle fibers as well as the length of the thin filaments, in muscle fibers from 51 patients with thin filament myopathy caused by mutations in NEB, ACTA1, TPM2, TPM3, TNNT1, KBTBD13, KLHL40, and KLHL41...
June 2016: Annals of Neurology
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