Review
Geriatrics & Gerontology
Benrong Liu, Wen-Chao Ou, Lei Fang, Chao-Wei Tian, Yujuan Xiong
Summary: Cell regulatory networks are crucial for maintaining cellular homeostasis, with MEF2A playing a key role in regulating various cellular processes. It is involved in growth, differentiation, survival, and death, and has important functions in heart development, myogenesis, and neuronal development.
Article
Cell Biology
Audrey Loumaye, Pascale Lause, Xiaoling Zhong, Teresa A. Zimmers, Laure B. Bindels, Jean-Paul Thissen
Summary: This study investigated the effects of Activin A (ActA) on human skeletal muscle (SM) and in mouse models of cancer-induced cachexia (CC). The results showed that ActA induces myotube atrophy and inhibits the expression and activity of MEF2C, leading to the decrease in MyHC-beta/slow, the main myosin isoform in human muscle cells. Animal models of CC exhibited a decline in MEF2C expression and SM mass, which were both attenuated by ActA inhibition. This study reveals a novel interaction between ActA signaling and MEF2C transcriptional activity in SM atrophy in CC models.
Review
Biochemistry & Molecular Biology
Francis X. Pizza, Kole H. Buckley
Summary: Injury to skeletal muscle initiates muscle regeneration, which involves the formation of regenerating myofibers with central myonuclei. However, little is known about the maturation process of regenerating myofibers into normal-sized myofibers with peripheral myonuclei. This review compares and contrasts myofiber maturation during muscle development and regeneration, aiming to identify unique cellular and molecular processes of myofiber maturation in muscle regeneration.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biology
Zhenzhen Xiong, Mengni Wang, Shanshan You, Xiaoyan Chen, Jiangguo Lin, Jianhua Wu, Xiaozhong Shi
Summary: In this study, we identified the mechanism regulating the dynamic expression of Tceal7 during skeletal muscle regeneration, and demonstrated the interaction between the triple complex of Mef2c, Creb1, and Myod and the Mef2#3-CRE#3-E#4 motifs in the Tceal7 promoter, which drives Tceal7 expression.
Article
Biochemistry & Molecular Biology
Eun Ju Lee, Sibhghatulla Shaikh, Mohammad Hassan Baig, So-Young Park, Jeong Ho Lim, Syed Sayeed Ahmad, Shahid Ali, Khurshid Ahmad, Inho Choi
Summary: This study reports the potential of novel peptides MIF1 and MIF2 derived from MSTN in enhancing myogenesis and reducing adipogenesis. Modified MIF1 and MIF2 showed better cell proliferation and differentiation compared to non-modified peptides. Pretreatment of mice with (Ac)-MIF1 or (Ac)-MIF2-(NH2) promoted muscle regeneration.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Andreia Adriao, Sara Mariano, Jose Mariano, Paulo J. J. Gavaia, M. Leonor Cancela, Marta Vitorino, Natercia Conceicao
Summary: The zebrafish mef2ca;mef2cb double mutants display multiple abnormal phenotypes, including severe craniofacial deformities, developmental arrest due to cardiac edema, and clear alterations in behavior. These mutant lines are valuable for studying MRD20 disease, identifying new therapeutic targets, and screening for potential rescue strategies.
Review
Multidisciplinary Sciences
Rishabh Chaudhary, Vipul Agarwal, Arjun Singh Kaushik, Mujeeba Rehman
Summary: MEF2 is a crucial family of transcription factors involved in the growth and differentiation of various human cells, and has been associated with neurological conditions such as ASD. Recent studies have linked MEF2C defects to neurodevelopmental disorders like ASD.
Article
Biochemistry & Molecular Biology
Miquel Perello-Amoros, Aitor Otero-Tarrazon, Violeta Jorge-Pedraza, Isabel Garcia-Perez, Albert Sanchez-Moya, Jean-Charles Gabillard, Fatemeh Moshayedi, Isabel Navarro, Encarnacion Capilla, Jaume Fernandez-Borras, Josefina Blasco, Josep Chillaron, Daniel Garcia de la Serrana, Joaquim Gutierrez
Summary: This study characterized the expression of fusogens Myomaker and Myomixer in gilthead sea bream and investigated their roles in in vitro myogenesis, muscle regeneration, and development stages. The results showed that Myomaker and Myomixer are valuable markers of muscle growth and their expression is consistent with myogenic regulatory factors.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Engineering, Biomedical
Oanh-Vu Pham-Nguyen, Young Ju Son, Tae-wan Kwon, Junhyung Kim, Yun Chan Jung, Jong Bae Park, Byung-Jae Kang, Hyuk Sang Yoo
Summary: This study demonstrates the therapeutic feasibility of mechanically stimulated myotubes on gelatin nanofiber for the robust recovery of volumetric muscle loss in animal models. Improvements in myotube differentiation and enhanced muscle recovery were observed when myotubes were implanted on stepwise stretched gelatin nanofibers in animal models with extensive muscle injury.
ADVANCED HEALTHCARE MATERIALS
(2021)
Article
Geriatrics & Gerontology
Qian-qian Sun, Huan Zhu, Hui-yu Tang, Yan-yan Liu, Yan-yu Chen, Shumeng Wang, Yi Qin, Hua-tian Gan, Shuang Wang
Summary: Obesity is a risk factor for sarcopenia, and sarcopenic obesity (SO), a new category of obesity, is a high-risk geriatric syndrome. However, the molecular pathomechanisms of SO are still poorly understood. In this study, a rat model of SO was established by feeding male Sprague-Dawley rats a high-fat diet for 28 weeks. RNA-seq analysis revealed that differentially expressed genes (DEGs) and alternative splicing events mainly involved inflammatory and immune responses, muscle and fat cell differentiation, and antigen processing. The mef2c gene, a key regulator of skeletal muscle, showed down-regulated expression and significant alternative splicing in HFD-induced SO. GO analysis identified alternative genes targeted by mef2c to be enriched in the regulation of RNA polymerase II promoter. These findings provide a starting point for understanding the pathway and mechanism of sarcopenic obesity in aging rats.
ARCHIVES OF GERONTOLOGY AND GERIATRICS
(2023)
Article
Geriatrics & Gerontology
Yuancheng Mao, Chang Yeob Han, Lihua Hao, In Hyuk Bang, Eun Ju Bae, Byung-Hyun Park
Summary: The role of PAK4 in muscle regeneration is still unclear, but studies have shown that overexpression of PAK4 inhibits myoblast fusion and muscle formation, while silencing PAK4 promotes muscle regeneration. Additionally, orally administered PAK4 inhibitor can accelerate myotube formation.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2021)
Review
Cell Biology
Lara Rodriguez-Outeirino, Francisco Hernandez-Torres, F. Ramirez-de Acuna, Lidia Matias-Valiente, Cristina Sanchez-Fernandez, Diego Franco, Amelia Eva Aranega
Summary: Muscle regeneration is a crucial homeostatic process in adult skeletal muscle, sharing similarities with embryonic myogenesis. Satellite cells are the main muscle stem cells responsible for regeneration, displaying functional heterogeneity with undifferentiated subpopulations more prone to self-renewal and committed progenitor cells ready for myogenic differentiation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Cell Biology
Hadi Boukhatmi
Summary: Experiments in Drosophila have been essential in understanding the molecular and cellular mechanisms regulating MuSCs, with a rich genetic toolbox available. The study revealed how AMPs in fruit flies are positioned, acquire identity, and are controlled by environmental signals. Recent identification of adult MuSCs in fruit flies with similar characteristics to vertebrates opens up new possibilities for muscle stem cell biology research.
Review
Biochemistry & Molecular Biology
Amelia Eva Aranega, Estefania Lozano-Velasco, Lara Rodriguez-Outeirino, Felicitas Ramirez de Acuna, Diego Franco, Francisco Hernandez-Torres
Summary: miRNAs play a critical role in modulating muscle regeneration and stem cell behavior, which is essential for treating muscle disorders. Recent advancements suggest that optimizing muscle stem cell response through miRNAs, in conjunction with gene replacement therapies, can improve muscle regeneration in the context of DMD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
Donghao Zhang, Lingqian Yin, Zhongzhen Lin, Chunlin Yu, Jingjing Li, Peng Ren, Chaowu Yang, Mohan Qiu, Yiping Liu
Summary: Skeletal muscle regeneration depends on the regulation of miRNAs, including miR-136-5p, which promotes myoblast proliferation and differentiation by targeting FZD4 and enhancing downstream myogenic factors. Knockdown of miR-136-5p accelerates muscle regeneration in a mouse model of muscle injury and may have potential therapeutic applications for human skeletal muscle injury.
JOURNAL OF CELLULAR PHYSIOLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Jean-Baptiste Dupont, Jianjun Guo, Edith Renaud-Gabardos, Karine Poulard, Virginie Latournerie, Michael W. Lawlor, Robert W. Grange, John T. Gray, Ana Buj-Bello, Martin K. Childers, David L. Mack
Article
Cell Biology
Claire Yuan, Ashwin Arora, Anthony M. Garofalo, Robert W. Grange
Summary: This study explores the potential signaling between dystrophic skeletal muscle and tendon in Duchenne muscular dystrophy, focusing on the cross-talk at the myotendinous junction. The absence of dystrophin and the associated dystrophin-glycoprotein complex is a key feature of Duchenne muscular dystrophy, with other potential signal pathways contributing to the cross-talk between muscle and tendon.
CONNECTIVE TISSUE RESEARCH
(2021)
Article
Physiology
Katherine E. Bukovec, Xiao Hu, Matthew Borkowski, Duane Jeffery, Silvia S. Blemker, Robert W. Grange
JOURNAL OF APPLIED PHYSIOLOGY
(2020)
Article
Physiology
Sabah N. Rezvani, Anne E. C. Nichols, Robert W. Grange, Linda A. Dahlgren, P. Gunnar Brolinson, Vincent M. Wang
Summary: Achilles tendinopathy is a challenging condition with limited effective therapies. This study introduced a novel mouse model of hindlimb muscle loading for targeted therapeutic exercise, showing promising results in improving biomechanical outcomes in a murine tendinopathy model. This model opens up possibilities for further research on how muscle loading can enhance healing of Achilles tendon injuries.
JOURNAL OF APPLIED PHYSIOLOGY
(2021)
Article
Medicine, Research & Experimental
Shelby E. Hamm, Daniel D. Fathalikhani, Katherine E. Bukovec, Adele K. Addington, Haiyan Zhang, Justin B. Perry, Ryan P. McMillan, Michael W. Lawlor, Mariah J. Prom, Mark A. Vanden Avond, Suresh N. Kumar, Kirsten E. Coleman, J. B. Dupont, David L. Mack, David A. Brown, Carl A. Morris, J. Patrick Gonzalez, Robert W. Grange
Summary: The study showed that combining voluntary wheel running with microdystrophin gene therapy in young mdx mice improved whole-body performance, affected muscle function to varying degrees, mitigated energy deficits, but also revealed some detrimental effects of exercise.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2021)
Article
Endocrinology & Metabolism
Jonathan J. Rios, Kristin Denton, Jamie Russell, Julia Kozlitina, Carlos R. Ferreira, Amy F. Lewanda, Joshua E. Mayfield, Eva Moresco, Sara Ludwig, Miao Tang, Xiaohong Li, Stephen Lyon, Anas Khanshour, Nandina Paria, Aysha Khalid, Yang Li, Xudong Xie, Jian Q. Feng, Qian Xu, Yongbo Lu, Robert E. Hammer, Carol A. Wise, Bruce Beutler
Summary: Proper skeletal development requires coordination of complex molecular mechanisms, and disruption of these processes through genetic mutation can lead to skeletal abnormalities. The study successfully developed a high-throughput skeletal screening approach to identify genes essential for skeletal development, showing the feasibility of in vivo mutagenesis to create mouse models of skeletal disease and characterize mutations in developmentally essential genes like FAM20B. Results and engineered mouse models from the study are publicly available through the Mutagenetix database.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Review
Biology
Andrea L. Reid, Matthew S. Alexander
Summary: Duchenne muscular dystrophy is a neuromuscular disease caused by mutation in the DYSTROPHIN gene, leading to loss of ambulation, cardiac arrhythmia, metabolic syndrome, and respiratory failure. Lack of dystrophin in muscles results in myofiber death, fibrotic infiltration, and mitochondrial dysfunction. Mitochondrial dysfunction is an early cellular change in DMD, which can exacerbate inflammation and worsen disease pathology.
Article
Nutrition & Dietetics
Brittney Knott, Matthew A. Kocher, Henry A. Paz, Shelby E. Hamm, William Fink, Jordan Mason, Robert W. Grange, Umesh D. Wankhade, Deborah J. Good
Summary: This study demonstrated that Snord116(m+/p-) mice and mice with a deletion of both Snord116 alleles showed weight and fat loss on a high-fat/CLA diet, indicating that the genotype did not interfere with CLA actions. There were no changes in food intake or metabolic rate, and only moderate differences in exercise performance. RNA-seq and microbiome analyses identified hypothalamic mRNAs and differentially populated gut bacteria, supporting future mechanistic analyses.
Article
Biology
Theresa Pohlkamp, Xunde Xian, Connie H. Wong, Murat S. Durakoglugil, Gordon C. Werthmann, Takaomi C. Saido, Bret M. Evers, Charles L. White, Jade Connor, Robert E. Hammer, Joachim Herz
Summary: By inhibiting the EE-specific sodium-hydrogen exchanger 6 (NHE6) to enhance endosomal acidification, vesicular trafficking can be restored and synaptic homeostasis normalized. In mice, loss or inhibition of NHE6 effectively suppressed amyloid deposition. These findings suggest that NHE6 suppression or inhibition may be a new approach to prevent Alzheimer's disease.
Correction
Medicine, Research & Experimental
Shelby E. Hamm, Daniel D. Fathalikhani, Katherine E. Bukovec, Adele K. Addington, Haiyan Zhang, Justin B. Perry, Ryan P. McMillan, Michael W. Lawlor, Mariah J. Prom, Mark A. Vanden Avond, Suresh N. Kumar, Kirsten E. Coleman, J. B. Dupont, David L. Mack, David A. Brown, Carl A. Morris, J. Patrick Gonzalez, Robert W. Grange
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2021)
Review
Genetics & Heredity
Adrienne Samani, Katherine G. English, Michael A. Lopez, Camille L. Birch, Donna M. Brown, Gurpreet Kaur, Elizabeth A. Worthey, Matthew S. Alexander
Summary: The DOCK gene family plays an essential role in cellular migration, growth, and fusion in various cell types and tissues. Rare pathogenic variants in DOCK genes have been identified in patients with undiagnosed genetic disorders. This systematic review aims to categorize and analyze these pathogenic DOCK variants and their associated clinical phenotypes to identify potential therapeutic strategies and targets for neuromuscular diseases and other pathologies. This study provides important implications for personalized genomic medicine, clinical diagnoses, and targeted therapeutic outcomes.
Article
Biochemistry & Molecular Biology
Michael A. Lopez, Ying Si, Xianzhen Hu, Valentyna Williams, Fuad Qushair, Jackson Carlyle, Lyndsy Alesce, Michael Conklin, Shawn Gilbert, Marcas M. Bamman, Matthew S. Alexander, Peter H. King
Summary: Duchenne muscular dystrophy (DMD) is characterized by muscle instability, wasting, and fibrosis. This study found an aberrant upregulation of a signaling pathway and a decrease in specific microRNAs in DMD patient muscle cells. Inhibition of this pathway promoted muscle cell differentiation and suppressed inflammation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Katherine G. English, Andrea L. Reid, Adrienne Samani, Gerald J. F. Coulis, S. Armando Villalta, Christopher J. Walker, Sharon Tamir, Matthew S. Alexander
Summary: Duchenne muscular dystrophy (DMD) is a childhood neuromuscular disorder characterized by chronic inflammation. KPT-8602 has been identified as an effective therapeutic in DMD, improving pathological outcomes and promoting an anti-inflammatory environment.
Editorial Material
Medicine, Research & Experimental
Muthukumar Karuppasamy, Matthew S. Alexander
MOLECULAR THERAPY-NUCLEIC ACIDS
(2023)
Review
Genetics & Heredity
Matthew S. Alexander, Milen Velinov
Summary: The DOCK3 protein, highly expressed in neurons, plays a role in cell adhesion and neuronal outgrowth through interaction with the actin cytoskeleton and key cell signaling molecules. Variants in the DOCK3 gene have been associated with intellectual disability and muscle hypotonia, but their relationship with congenital malformations outside of the CNS is unclear. Further studies are needed to determine the prevalence of DOCK3-associated neurodevelopmental disorders and non-CNS clinical manifestations in these patients.
Review
Developmental Biology
Cheng Shi, Pengfei Jiao, Zhiyi Chen, Lan Ma, Siyue Yao
Summary: This review discusses the molecular etiology of congenital craniofacial abnormalities, with a focus on the role and mechanism of noncoding RNAs in regulating craniofacial development. Aberrant expression of noncoding RNAs has been implicated in the pathogenesis of craniofacial abnormalities, providing potential therapeutic targets.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Hideru Togashi, Steven Ray Davis, Makoto Sato
Summary: Tile patterns, regulated by cell adhesion molecules, are regular arrangements of cells that play important functional roles in multicellular organisms. The physical constraints and cell adhesion regulate both cell shape and tissue morphogenesis.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Armen Khanbabei, Lina Segura, Cynthia Petrossian, Aaron Lemus, Ithan Cano, Courtney Frazier, Armen Halajyan, Donnie Ca, Mariano Loza-Coll
Summary: This article investigates the genetic regulatory mechanisms of Drosophila intestinal stem cells. The study found that most target genes co-regulated by Esg and STAT show a consistent gene expression pattern. However, manipulating these validated targets in vivo rarely replicated the effects of manipulating Esg and STAT, suggesting the presence of complex genetic interactions among the downstream targets of these two master regulator genes.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Bayley J. Waters, Zoe R. Birman, Matthew R. Wagner, Julia Lemanski, Barak Blum
Summary: Researchers found that conditional deletion of Robo2 in adult mice led to a significant loss of islet architecture without affecting beta cell identity or function, suggesting that Robo2 plays a role in actively maintaining adult islet architecture. Understanding the factors required for islet architecture maintenance is crucial for developing future diabetes therapies.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Rhiannon Clements, Tyler Smith, Luke Cowart, Jennifer Zhumi, Alan Sherrod, Aidan Cahill, Ginger L. Hunter
Summary: Cell protrusions play a crucial role in regulating cell activities during development. By studying the regulation mechanism in fruit fly sensory bristle patterning, it was found that Myosin XV is essential for the dynamics of signaling filopodia and promotes long-range Notch signaling.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Margaret Keating, Ryan Hagle, Daniel Osorio-Mendez, Anjelica Rodriguez-Parks, Sarah I. Almutawa, Junsu Kang
Summary: Knock-in reporter (KI) animals are essential for studying gene expression in biomedical research. This study developed a new strategy using minicircle technology and a minimal promoter to enhance knock-in events and establish stable KI transgenic reporter lines. The study also highlighted the importance of selecting the proper KI line due to potential inappropriate influence of genome editing on reporter gene expression.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Christian Altbuerger, Meta Rath, Daniel Armbruster, Wolfgang Driever
Summary: This study reveals that Neurog1 and Olig2 transcription factors have differential requirements for the development of dopaminergic neurons, and they integrate local patterning signals and Notch neurogenic selection signaling to specify the progenitor population and initiate neurogenesis and differentiation.
DEVELOPMENTAL BIOLOGY
(2024)