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Total 132 results found since Jan 2013.
Sex differences in the involvement of skeletal and cardiac muscles in myopathic Ano5 < sup > -/- < /sup > mice
Am J Physiol Cell Physiol. 2022 Jan 12. doi: 10.1152/ajpcell.00350.2021. Online ahead of print.ABSTRACTLimb-girdle muscular dystrophy R12 (LGMD-R12) is caused by recessive mutations in the Anoctamin-5 gene (ANO5, TMEM16E). Although ANO5 myopathy is not X-chromosome linked, we performed a meta-analysis of the research literature and found that three-quarters of LGMD-R12 patients are males. Females are less likely to present with moderate to severe skeletal muscle and/or cardiac pathology. Because these sex differences could be explained in several ways, we compared males and females in a mouse model of LGMD-R12. This model ...
Source: American Journal of Physiology. Cell Physiology - January 12, 2022 Category: Cytology Authors: Steven Foltz Fang Wu Nasab Ghazal Jennifer Q Kwong H Criss Hartzell Hyojung J Choo Source Type: research
Defining and Identifying Satellite Cell-opathies within Muscular Dystrophies and Myopathies
Exp Cell Res. 2021 Nov 2:112906. doi: 10.1016/j.yexcr.2021.112906. Online ahead of print.ABSTRACTMuscular dystrophies and congenital myopathies arise from specific genetic mutations causing skeletal muscle weakness that reduces quality of life. Muscle health relies on resident muscle stem cells called satellite cells, which enable life-course muscle growth, maintenance, repair and regeneration. Such tuned plasticity gradually diminishes in muscle diseases, suggesting compromised satellite cell function. A central issue however, is whether the pathogenic mutation perturbs satellite cell function directly and/or indirectly v...
Source: Experimental Cell Research - November 6, 2021 Category: Cytology Authors: Massimo Ganassi Francesco Muntoni Peter S Zammit Source Type: research
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition
Genet Mol Biol. 2021 Aug 6;44(3):e20200332. doi: 10.1590/1678-4685-GMB-2020-0332. eCollection 2021.ABSTRACTTwo Italian patients with the initial clinical diagnosis of Rothmund-Thomson syndrome were negative for RECQL4 mutations but showed in peripheral blood cells a spontaneous chromosomal instability significantly higher than controls. Revisiting after time their clinical phenotype, the suggestive matching with the autosomal dominant syndrome Poikiloderma, Hereditary Fibrosing with Tendon Contracture, Myopathy and Pulmonary fibrosis (POIKTMP) was confirmed by identification of the c.1879A>G (p.Arg627Gly) alteration in ...
Source: Mol Biol Cell - August 6, 2021 Category: Molecular Biology Authors: Gaia Roversi Elisa Adele Colombo Ivana Magnani Cristina Gervasini Giuseppe Maggiore Mauro Paradisi Lidia Larizza Source Type: research
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium
Troponin C (TnC) is a critical regulator of skeletal muscle contraction; it binds Ca2+ to activate muscle contraction. Surprisingly, the gene encoding fast skeletal TnC (TNNC2) has not yet been implicated in muscle disease. Here, we report 2 families with pathogenic variants in TNNC2. Patients present with a distinct, dominantly inherited congenital muscle disease. Molecular dynamics simulations suggested that the pathomechanisms by which the variants cause muscle disease include disruption of the binding sites for Ca2+ and for troponin I. In line with these findings, physiological studies in myofibers isolated from patien...
Source: Journal of Clinical Investigation - May 3, 2021 Category: Biomedical Science Authors: Martijn van de Locht, Sandra Donkervoort, Josine M. de Winter, Stefan Conijn, Leon Begthel, Benno Kusters, Payam Mohassel, Ying Hu, Livija Medne, Colin Quinn, Steven A. Moore, A. Reghan Foley, Gwimoon Seo, Darren T. Hwee, Fady I. Malik, Thomas Irving, Wei Source Type: research
GSE153068 FoxP1 is sufficient and required for skeletal muscle wasting
Contributors : Sarah Judge ; Andrew Judge ; Daria Neyroud ; Rachel NosackaSeries Type : Expression profiling by arrayOrganism : Mus musculusSkeletal muscle wasting is a devastating consequence of cancer that affects up to 80% of cancer patients and associates with reduced survival. Herein we identified the transcriptional repressor protein, Forkhead box P1 (FoxP1), as a downstream target gene of FoxO1 whose skeletal muscle expression is elevated in multiple models of cancer cachexia and in patients with cancer who exhibit cachexia. Through generation of inducible skeletal muscle-specific FoxP1 over-expressing (FoxP1iSkmTg/...
Source: GEO: Gene Expression Omnibus - April 28, 2021 Category: Genetics & Stem Cells Tags: Expression profiling by array Mus musculus Source Type: research
Effect of growth selection of broilers on breast muscle satellite cell function: Response of satellite cells to NOV, COMP, MYBP-C1, and CSRP3.
Abstract
The wooden breast (WB) myopathy is characterized by the palpation of a hard pectoralis major muscle that results in the necrosis and fibrosis of muscle fibers in fast-growing heavy weight meat-type broiler chickens. Necrosis of existing muscle fibers requires the repair and replacement of these myofibers. Satellite cells are responsible for the repair and regeneration of myofibers. To address how WB affects satellite cell function, top differentially expressed genes in unaffected and WB-affected pectoralis major muscle determined by RNA-Sequencing were studied by knocking down their expression by small in...
Source: Comparative Biochemistry and Physiology. Part A, Molecular and integrative physiology. - February 3, 2021 Category: Physiology Authors: Velleman SG, Coy CS, Abasht B Tags: Comp Biochem Physiol A Mol Integr Physiol Source Type: research
Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging.
We present a case of a patient with MM incidentally diagnosed with concomitant cardiomyopathy.
PMID: 33518658 [PubMed - in process]
Source: International Heart Journal - February 2, 2021 Category: Cardiology Tags: Int Heart J Source Type: research
An advanced optical clearing protocol allows label-free detection of tissue necrosis via multiphoton microscopy in injured whole muscle
Conclusion: TDE optical clearing is a versatile tool to study muscle architecture in conjunction with label-free multiphoton imaging in 3D in injury/myopathy models and might also be useful in studying larger biofabricated constructs in regenerative medicine.
Source: Theranostics - January 15, 2021 Category: Molecular Biology Authors: Dominik Schneidereit, Anita Br ö llochs, Paul Ritter, Lucas Krei ß , Zeinab Mokhtari, Andreas Beilhack, Gerhard Kr ö nke, Jochen A Ackermann, Maria Faas, Anika Gr ü neboom, Sebastian Sch ü rmann, Oliver Friedrich Tags: Research Paper Source Type: research
Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant
In this study, we aimed to describe atypical phenotypic characteristics in a patient with familial partial lipodystrophy type 2 associated with LMNA variant, another with mandibuloacral dysplasia, and a third patient with a complex phenotype as well as discuss them in the context of their relationship with the genotype.
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Immune Checkpoint Inhibitor-Induced Polymyositis and Myasthenia Gravis with Fatal Outcome
In conclusion, ICIs may induce myositis combined with neurological immune-related adverse events. In patients developing muscle weakness and pain under ICI therapy, myositis should be suspected.Case Rep Oncol 2020;13:1252 –1257
Source: Case Reports in Oncology - October 14, 2020 Category: Cancer & Oncology Source Type: research
Limb girdle muscular dystrophies
Anoctamin 5 (ANO5) belongs to the Anoctamin family of transmembrane proteins and has been suggested to play a part in muscle cell membrane fusion and repair. Mutations in the ANO5 gene are a common cause of muscular dystrophy. Little is known about the pathophysiology in ANO5 ‐related muscular dystrophy. The purpose of this study was to investigate whether inflammatory changes are present in patients with ANO5 myopathy by making a systematic histological and MRI-based evaluation of muscles. Muscle biopsies from 24 patients diagnosed with ANO5 myopathy were reviewed.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: S. Holm-Yildiz, N. Witting, K. Kass, T. Khawajazada, T. Krag, J. Vissing Source Type: research
Autoantibodies targeting TRIM72 compromise membrane repair and contribute to inflammatory myopathy
Idiopathic inflammatory myopathies (IIM) involve chronic inflammation of skeletal muscle and subsequent muscle degeneration due to an uncontrolled autoimmune response; however, the mechanisms leading to pathogenesis are not well understood. A compromised sarcolemmal repair process could promote an aberrant exposure of intramuscular antigens with the subsequent initiation of an inflammatory response that contributes to IIM. Using an adoptive transfer mouse model of IIM, we show that sarcolemmal repair is significantly compromised in distal skeletal muscle in the absence of inflammation. We identified autoantibodies against ...
Source: Journal of Clinical Investigation - July 21, 2020 Category: Biomedical Science Authors: Kevin E. McElhanon, Nicholas Young, Jeffrey Hampton, Brian J. Paleo, Thomas A. Kwiatkowski, Eric X Beck, Ana Capati, Kyle Jablonski, Travis Gurney, Miguel A. Lopez Perez, Rohit Aggarwal, Chester V. Oddis, Wael N. Jarjour, Noah Weisleder Source Type: research
