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Nutrigenomics for Sport and Exercise Performance
Published in Peter M. Tiidus, Rebecca E. K. MacPherson, Paul J. LeBlanc, Andrea R. Josse, The Routledge Handbook on Biochemistry of Exercise, 2020
Nanci S. Guest, Marc Sicova, Ahmed El-Sohemy
The ACTN3 (rs1815739) gene encodes the alpha-actin 3 protein, which plays a key role in the contraction of fast-twitch or power-type muscle fibres during short bursts of intense activities, such as sprinting or lifting heavy objects (154). Genetic variation in ACTN3 affects the expression of the resulting protein in fast-twitch fibres, and individuals who carry at least one copy of the T variant produce a lower-functioning ACTN3 protein that has been linked to increased risk of muscle damage (52). For example, a recent study showed that experienced endurance athletes with the T variant had higher levels of markers of muscle damage after a competitive marathon (38) compared to individuals with the CC variant. A similar trend was observed in a study where healthy young men performed knee extension exercises, working the quadriceps, in a laboratory setting (39).
Fibrogenic Cytokines in Airway Fibrosis
Published in Alastair G. Stewart, AIRWAY WALL REMODELLING in ASTHMA, 2020
Granylocyte/macrophage colony-stimulating factor (GM-CSF) is a glycoprotein of 127 amino acids encoded by a gene on chromosome 5, produced by a range of cells resident within the airway, including T-lymphocytes, macrophages, epithelium, fibroblasts, eosinophils, and mast cells.105–113 It acts to prime, activate, and induce replication of constituent airway cells in asthma, including eosinophils, mast cells, and fibroblasts.114–117 Gauldie et al.69 have raised the prospect that GM-CSF may be influential in airway fibrosis, as well as in the perpetuation of inflammation. Fibroblasts actively produce GM-CSF capable of supporting eosinophils,107 and subcutaneous administration of GM-CSF by infusion pump may induce a fibroblast proliferate response.117 GM-CSF-derived fibroblast proliferation led to an accumulation of alpha-actin-positive myofibroblasts, such as those seen below the subepithelial collagen layer in asthma.118 The ability of GM-CSF to induce fibroblast phenotype differentiation may be inferred from its ability to induce fibroblast colony formation from bone marrow stromal cells in anchorage-independent growth conditions.9 Hence, GM-CSF, although considered to be predominantly proinflammatory in nature, may be relatively influential in regulating fibroblast replication and activity within the bronchial submucosa.
Hereditary Multiple Osteochondromas
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Germline loss-of-function mutations (e.g., nonsense, frameshift, splice site, missense variants) in the EXT1 and EXT2 genes leading to premature terminations of the EXT proteins cause HS deficiency and subsequent cytoskeletal abnormalities (e.g., actin accumulation, excessive bundling by alpha-actinin, and abnormal presence of muscle-specific alpha-actin) [1].
Early clinical and pre-clinical therapy development in Nemaline myopathy
Published in Expert Opinion on Therapeutic Targets, 2022
Gemma Fisher, Laurane Mackels, Theodora Markati, Anna Sarkozy, Julien Ochala, Heinz Jungbluth, Sithara Ramdas, Laurent Servais
The second most common causative gene is ACTA1 which is reported in approximately 24–32% of NM patients [2,19]. The ACTA1 gene encodes alpha actin-1 which cross-links the barbed ends of the actin-based thin filaments of adjacent sarcomeres in the region of the Z-disks at the lateral border of the sarcomere [43]. Disease-causing variants in ACTA1 are usually autosomal dominant, and mostly a de novo occurrence, although recessive changes have also been described [12,20,44,45]. More than 200 disease-causing ACTA1 variants have been identified to date, largely randomly distributed along the coding sequence [20,46]. After NEB and ACTA1, disease causing variants in TPM2, TPM3, KLHL40, KBTBD13, and LMOD3 are somewhat more common than in the other NM genes [2,19].
Ophthalmological Manifestations of Hereditary Myopathies
Published in Journal of Binocular Vision and Ocular Motility, 2022
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
Nemaline myopathy (NM) represents the most common entity within the group of congenital myopathies.5 NM is characterized by the presence of rod-like structures in the cytoplasm of muscle fibers.12 NM is caused mainly by recessive mutations of NEB (encoding nebulin), dominant mutations of ACTA1 (encoding skeletal alpha-actin), and less frequently by mutations of other genes.5 There are five clinical forms of nemaline myopathy ranging from the severe neonatal form, which occurs at birth with severe hypotonia to the variant of onset in adults that has a milder phenotype. Nemaline rods can be seen infrequently in other neuromuscular disorders, such as dermatomyositis and HIV myopathy.10 In most cases, there are no ophthalmic manifestations; however, isolated cases have been described.13,14
Effects of losartan on vasomotor function and canonical transient receptor potential channels in the aortas of sinoaortic denervation rats
Published in Clinical and Experimental Hypertension, 2018
Minlie Liang, Wenliang Zhong, Fei Miao, Hongchao Wu, Yingfeng Liu
The primary cultured RAECs reached confluence approximately twelve days after inoculation and were arrayed like pitching stones, as determined via inverted phase-contrast microscopy (Figure 2A). The RASMCs exhibited a spindle-shaped appearance, and the confluent RASMCs grown in culture exhibited the characteristic ‘‘hill and valley’’ growth pattern (Figure 2B). Representative Flow cytometric analysis of RAECs (Figure 2C) and RASMCs (Figure 2D). About 96.5% RAECs were analyzed for expression of VIII, and 93.6% RASMCs were analyzed for expression of alpha-actin.