Veido-mentės-žasto raumenų distrofija: patogenezės, klinikinių simptomų ir gydymo apžvalga DOI Creative Commons

T. Mikalauskas,

Birutė Burnytė

Neurologijos seminarai, Journal Year: 2023, Volume and Issue: 93(3), P. 123 - 130

Published: Oct. 3, 2023

Facioscapulohumeral muscular dystrophy is the third most common characterised by weakness of face, scapula, upper arm, and other muscles. It can also lead to problems with eyes, hearing, breathing, heart, central nervous system. The disease divided into two types: first type occurs in 95% patients second 5%. phenotypic differences between types are not distinct, both resulting from dysregulation DUX4 expression leading skeletal muscle toxicity. a reduction D4Z4 repeats, while mutations genes encoding epigenetic regulators such as SMCHD1. In recent years, significant progress has been made understanding pathogenesis, clinical features, progression disease, but there still no specific treatment due obstacles development gene therapy. However, supportive measures, including physiotherapy orthotics, help improve function mobility, slow control symptoms. present many ways, an asymptomatic form life dependent on wheelchair, so it important for doctors keep up date latest information they identify this genetic disorder faster patient live full life.

Language: Английский

Celecoxib attenuates hindlimb unloading-induced muscle atrophy via suppressing inflammation, oxidative stress and ER stress by inhibiting STAT3 DOI
Yanan Ji,

Junfei Lin,

Ruiqi Liu

et al.

Inflammopharmacology, Journal Year: 2024, Volume and Issue: 32(2), P. 1633 - 1646

Published: March 7, 2024

Language: Английский

Citations

11
Role of Matrix Metalloproteinases in Musculoskeletal Diseases DOI Creative Commons
Lokender Kumar, Monish Bisen, Azhar Abbas Khan

et al.

Biomedicines, Journal Year: 2022, Volume and Issue: 10(10), P. 2477 - 2477

Published: Oct. 4, 2022

Musculoskeletal disorders include rheumatoid arthritis, osteoarthritis, sarcopenia, injury, stiffness, and bone loss. The prevalence of these conditions is frequent among elderly populations with significant mobility mortality rates. This may lead to extreme discomfort detrimental effect on the patient’s health socioeconomic situation. Muscles, ligaments, tendons, soft tissue are vital for body function movement. Matrix metalloproteinases (MMPs) regulatory proteases involved in synthesizing, degrading, remodeling extracellular matrix (ECM) components. By modulating ECM reconstruction, cellular migration, differentiation, MMPs preserve myofiber integrity homeostasis. In this review, role skeletal muscle function, injury repair, inflammation, muscular dystrophy future approaches MMP-based therapies musculoskeletal discussed at molecule level.

Language: Английский

Citations

29
Calcium Regulation of Connexin Hemichannels DOI Open Access
Erva Bayraktar, Diego Lopez-Pigozzi, Mario Bortolozzi

et al.

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(12), P. 6594 - 6594

Published: June 15, 2024

Connexin hemichannels (HCs) expressed at the plasma membrane of mammalian cells are paramount importance for intercellular communication. In physiological conditions, HCs can form gap junction (GJ) channels, providing a direct diffusive path between neighbouring cells. addition, unpaired provide conduits exchange solutes cytoplasm and extracellular milieu, including messenger molecules involved in paracrine signalling. The synergistic action potential Ca2+ ions controls gating large relatively unselective pore connexin HCs. four orders magnitude difference sensitivity to ([Ca2+]e) cytosolic ([Ca2+]c) concentrations suggests that least two different sensors may exist. While [Ca2+]e acts as spatial modulator HC opening, which is most likely dependent on cell layer, compartment, organ, [Ca2+]c triggers opening release bursts molecules. Such include ATP, cAMP, glutamate, NAD+, glutathione, D-serine, prostaglandins. Lost or abnormal regulation by has been associated with several diseases, deafness, keratitis ichthyosis, palmoplantar keratoderma, Charcot–Marie–Tooth neuropathy, oculodentodigital dysplasia, congenital cataracts. fact both an increased decreased linked pathological conditions healthy finely tunes normal function. Overall, further investigation needed clarify structural chemical modifications during variations. A molecular model accounts changes transmembrane voltage will undoubtedly enhance our interpretation experimental results pave way developing therapeutic compounds targeting specific dysfunctions.

Language: Английский

Citations

8
Role of Perinatal Stem Cell Secretome as Potential Therapy for Muscular Dystrophies DOI Creative Commons
Serafina Pacilio, Sara Lombardi, Roberta Costa

et al.

Biomedicines, Journal Year: 2025, Volume and Issue: 13(2), P. 458 - 458

Published: Feb. 13, 2025

Inflammation mechanisms play a critical role in muscle homeostasis, and Muscular Dystrophies (MDs), the myofiber damage triggers chronic inflammation which significantly controls disease progression. Immunomodulatory strategies able to target inflammatory pathways mitigate immune-mediated MDs may provide new therapeutic options. Owing its capacity of influencing immune response enhancing tissue repair, stem cells' secretome has been proposed as an adjunct or standalone treatment for MDs. In this review study, we discuss challenging points related condition characterizing MD pathology concise summary literature supporting potential perinatal cells targeting modulating inflammation.

Language: Английский

Citations

0
Functional Foods, a Hope to Delay Muscle Dystrophy Progression: A Potential Role for Omega Fatty Acids DOI Open Access
Ilaria Versari, Alberto Bavelloni, Mirko Traversari

et al.

Nutrients, Journal Year: 2025, Volume and Issue: 17(6), P. 1039 - 1039

Published: March 15, 2025

Functional foods, thanks to their basic nutritional properties, can have physiological benefits and alleviate the symptoms of many chronic diseases. They contain active components deriving either from plant or animal sources, they show anti-inflammatory, cardiotonic, antioxidant pharmacological activities that could be useful in preventing oxidative damage inflammatory processes a variety disorders. There is evidence vitro, vivo, clinical observational studies some compounds significant effects modulating muscular dystrophy phenotype, which characterized by fibrosis, myofiber necrotic cell death, inflammation, stress, dysfunctional mitochondria. This review involves collecting data main medical databases detailing key features involved progression relevance fatty-acid as diet supplements management disease. Omega fatty acids improve dystrophic phenotype terms fibrosis inflammation reduction, stimulating mitochondrial activity systems. play crucial role food supplementation delay progression. overview appears extremely relevant for researchers who are studying these molecules valid alternatives glucocorticoids, today remain only recognized cure patients.

Language: Английский

Citations

0
SARS-CoV-2 spike protein S1 activates Cx43 hemichannels and disturbs intracellular Ca2+ dynamics DOI Creative Commons
Juan Prieto-Villalobos,

Claudia Lucero,

Maximiliano Rovegno

et al.

Biological Research, Journal Year: 2023, Volume and Issue: 56(1)

Published: Oct. 25, 2023

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes the ongoing disease 2019 (COVID-19). An aspect of high uncertainty is whether SARS-CoV-2 per se or systemic inflammation induced by viral infection directly affects cellular function and survival in different tissues. It has been postulated that tissue dysfunction damage observed COVID-19 patients may rely on direct effects proteins. Previous evidence indicates human immunodeficiency virus its envelope protein gp120 increase activity connexin 43 (Cx43) hemichannels with negative repercussions for survival. Here, we evaluated spike S1 could impact Cx43 hemichannels.We found time dose-dependently increased HeLa-Cx43 cells, as measured dye uptake experiments. These responses were potentiated when angiotensin-converting enzyme (ACE2) was expressed cells. Patch clamp experiments revealed unitary current events conductances compatible hemichannels. In addition, hemichannel opening evoked triggered release ATP [Ca2+]i dynamics elicited ATP.We hypothesize represent potential pharmacological targets developing therapies to counteract their long-term consequences.

Language: Английский

Citations

7
Deletion of Dux ameliorates muscular dystrophy in mdx mice by attenuating oxidative stress via Nrf2 DOI

Siyuan Sun,

Wen Zhai,

Ruixue Zhang

et al.

The FASEB Journal, Journal Year: 2024, Volume and Issue: 38(14)

Published: July 11, 2024

Abstract DUX4 has been widely reported in facioscapulohumeral muscular dystrophy, but its role Duchenne dystrophy (DMD) is unclear. Dux the mouse paralog of DUX4. In −/− mdx mice, forelimb grip strength test and treadmill were performed, extensor digitorum longus (EDL) contraction properties measured to assess skeletal muscle function. Pathological changes mice determined by serum CK LDH levels Masson staining. Inflammatory factors, oxidative stress, mitochondrial function indicators detected using kits. Primary satellite cells isolated, antioxidant molecule Nrf2 was detected. MTT assay Edu used evaluate proliferation TUNEL for cell death. The results show that deletion enhanced EDL contractility, prolonged running time distance mice. Deleting also attenuated fibrosis, inflammation, dysfunction Furthermore, deficiency promoted survival increasing

Language: Английский

Citations

2
Bone Marrow Mesenchymal Stem Cell-Derived Exosomal MiR-744-5p Alleviates Obstructive Sleep Apnea-Induced Myocardial Injury by Targeting NFIX DOI Open Access
Jiarong Wang, Lili Huang, Yimin Chen

et al.

International Heart Journal, Journal Year: 2024, Volume and Issue: 65(6), P. 1144 - 1152

Published: Nov. 29, 2024

Obstructive sleep apnea (OSA) is characterized by repetitive pharyngeal collapses during sleep, which leads to intermittent hypoxia, a risk factor of OSA-related cardiovascular morbidity.

Language: Английский

Citations

1
Antioxidant effects of LEDT in dystrophic muscle cells: involvement of PGC-1α and UCP-3 pathways DOI
Guilherme Luiz da Rocha, Dimitrius Santiago P.S.F. Guimarães,

Marcos Vinicius da Cruz

et al.

Photochemical & Photobiological Sciences, Journal Year: 2023, Volume and Issue: 23(1), P. 107 - 118

Published: Dec. 6, 2023

Language: Английский

Citations

3
LED therapy plus idebenone treatment targeting calcium and mitochondrial signaling pathways in dystrophic muscle cells DOI Creative Commons
Heloina Nathalliê Mariano da Silva,

Daniela Sayuri Mizobuti,

Valéria Andrade Pereira

et al.

Cell Stress and Chaperones, Journal Year: 2023, Volume and Issue: 28(6), P. 773 - 785

Published: Aug. 14, 2023

Intracellular calcium dysregulation, oxidative stress, and mitochondrial dysfunction are some of the main pathway contributors towards disease progression in Duchenne muscular dystrophy (DMD). This study is aimed at investigating effects light emitting diode therapy (LEDT) idebenone antioxidant treatment, applied alone or together dystrophic primary muscle cells from mdx mice, experimental model DMD. Mdx were submitted to LEDT treatment evaluated for cytotoxic signaling pathways. showed no on cells. Regarding pathways, after a significant reduction intracellular content, calpain-1, calsequestrin, sarcolipin levels, was observed. In addition, stress level markers, such as H

Language: Английский

Citations

2