Article
Medicine, Research & Experimental
Joel Iff, Yi Zhong, Deepshekhar Gupta, Xander Paul, Edward Tuttle, Erik Henricson, Rachel Schrader
Summary: This study identified stages of Duchenne muscular dystrophy (DMD) and assessed the disease burden using real-world administrative claims supplemented by relevant electronic medical record (EMR) data. The findings indicate that there are significant age differences among patients in different disease stages, and the disease burden increases progressively.
ADVANCES IN THERAPY
(2022)
Article
Medicine, Research & Experimental
Cedric Happi Mbakam, Joel Rousseau, Yaoyao Lu, Anne Bigot, Kamel Mamchaoui, Vincent Mouly, Jacques P. Tremblay
Summary: In this study, researchers used CRISPR-Cas9 prime editing technology to correct a mutation in the DMD gene, resulting in improved editing efficiency and restoration of dystrophin protein expression. Optimization of the reverse transcription template sequence led to a significant increase in the editing percentage of the target nucleotide.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Clinical Neurology
Sarah P. Sherlock, Jeffrey Palmer, Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Enrico Bertini, Cuixia Tian, Jean K. Mah, Anna Kostera-Pruszczyk, Francesco Muntoni, Michela Guglieri, John F. Brandsema, Eugenio Mercuri, Russell J. Butterfield, Craig M. McDonald, Lawrence Charnas, Shannon Marraffino
Summary: Quantitative MRI measurements can serve as sensitive and objective biomarkers for evaluating disease progression and functional changes in boys with DMD.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Giulio Gadaleta, Guido Urbano, Chiara Brusa, Rossella D'Alessandro, Enrica Rolle, Ilaria Cavallina, Alessio Mattei, Fulvia Ribolla, Claudia Raineri, Stefano Pidello, Liliana Vercelli, Federica S. Ricci, Tiziana E. Mongini
Summary: The clinical characteristics of adults with DMD include mechanical ventilation, swallowing and nutritional issues, and bone density alterations. Other issues include respiratory infections, gastrointestinal symptoms, metabolic acidosis, psychiatric symptoms, and chronic pain. Patients have a negative perception of their physical health but a more positive assessment of their mental health.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Medicine, General & Internal
Ai-Ho Liao, Jheng-Ru Chen, Shi-Hong Liu, Chun-Hao Lu, Chia-Wei Lin, Jeng-Yi Shieh, Wen-Chin Weng, Po-Hsiang Tsui
Summary: The study utilized deep learning of ultrasound imaging for classifying patients with DMD, with the VGG-19 model demonstrating satisfactory classification performance and feature recognition for evaluating ambulatory function. This suggests that deep learning of muscle ultrasound is a potential strategy for DMD characterization.
Article
Pharmacology & Pharmacy
Zeren Sun, Dengqiu Xu, Lei Zhao, Xihua Li, Sijia Li, Xiaofei Huang, Chunjie Li, Lixin Sun, Bing Liu, Zhenzhou Jiang, Luyong Zhang
Summary: The study found that fenofibrate can promote the differentiation of myofibers by down-regulating the expression of myostatin protein in myoblasts, significantly improving muscle function and reducing muscle damage in mdx mice, along with anti-inflammatory effects.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Article
Nutrition & Dietetics
Ya-Chun Tang, Po-Hsiang Tsui, Chiao-Yin Wang, Yin-Hsiu Chien, Hui-Ling Weng, Chung-Yi Yang, Wen-Chin Weng
Summary: Growing evidence suggests that patients with Duchenne muscular dystrophy (DMD) have an increased risk of obesity and metabolic syndrome (MetS). This study investigated the potential risk factors for MetS and hepatic steatosis in different stages of DMD. The results showed that ultrasound NPI increased with DMD progression, and a high proportion of the patients had significant hepatic steatosis.
Review
Oncology
Anna Rugowska, Alicja Starosta, Patryk Konieczny
Summary: Duchenne muscular dystrophy is a multisystem disorder that predominantly affects boys, caused by mutations in the DMD gene leading to changes in dystrophin expression profile. Loss of dystrophin results in muscle fiber disintegration and impaired regeneration, with associations to the loss of neuronal nitric oxide synthase.
CLINICAL EPIGENETICS
(2021)
Article
Clinical Neurology
Craig M. Zaidman, Crystal M. Proud, Craig M. Mcdonald, Kelly J. Lehman, Natalie L. Goedeker, Stefanie Mason, Alexander P. Murphy, Maitea Guridi, Shufang Wang, Carol Reid, Eddie Darton, Christoph Wandel, Sarah Lewis, Jyoti Malhotra, Danielle A. Griffin, Rachael A. Potter, Louise R. Rodino-Klapac, Jerry R. Mendell
Summary: The study ENDEAVOR demonstrated that the commercial process delandistrogene moxeparvovec is safe and effective in improving micro-dystrophin expression in patients with Duchenne muscular dystrophy. After 12 weeks of treatment, significant improvements were observed in micro-dystrophin expression, as well as patient's functional outcomes and quality of life at 1 year.
ANNALS OF NEUROLOGY
(2023)
Article
Medical Laboratory Technology
Tomoko Lee, Sachi Tokunaga, Naoko Taniguchi, Maiko Misaki, Hideki Shimomura, Ichizo Nishino, Kyoko Itoh, Yasuhiro Takeshima
Summary: This study found that some girls with persistently elevated CK levels, even without a family history of muscle diseases, mostly had muscular dystrophy. Further investigations and diagnosis are recommended for girls with hyperCKemia.
CLINICA CHIMICA ACTA
(2021)
Article
Pediatrics
Aydan Kansu, Zarife Kuloglu, Gokhan Tumgor, Didem Gulcu Taskin, Buket Dalgic, Gonul Caltepe, Kaan Demiroren, Guzide Dogan, Ceyda Tuna Kirsaclioglu, Duran Arslan, Ishak Abdurrahman Isik, Hulya Demir, Ozlem Bekem, Yasin Sahin, Nevzat Aykut Bayrak, Mukadder Ayse Selimoglu, Sibel Yavuz, Ibrahim Ethem Taskaya, Derya Altay, VICTORIA Study Group
Summary: This study aimed to determine the prevalence of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children by analyzing creatine phosphokinase (CPK) levels and conducting genetic tests. The findings highlight the importance of screening for potential neuromuscular diseases in patients with isolated hypertransaminasemia, which can prevent unnecessary investigations for liver diseases and lead to timely diagnoses.
FRONTIERS IN PEDIATRICS
(2023)
Review
Cell Biology
Elisa Domi, Malvina Hoxha, Emanuela Prendi, Bruno Zappacosta
Summary: Duchenne muscular dystrophy is a muscular disease with no cure, and SIRT1 has been identified as a potential therapeutic target for the condition. Activation of SIRT1 improves muscle function, while its inhibition leads to muscle fragility.
Article
Cell Biology
Vittoria Marini, Fabiola Marino, Flaminia Aliberti, Nefele Giarratana, Enrico Pozzo, Robin Duelen, Alvaro Cortes Calabuig, Rita La Rovere, Tim Vervliet, Daniele Torella, Geert Bultynck, Maurilio Sampaolesi, Yoke Chin Chai
Summary: In this study, cardiac organoids were generated from patient-derived induced pluripotent stem cells to model Duchenne Muscular Dystrophy (DMD)-related cardiomyopathy. The organoids exhibited progressive loss of sarcoglycan localization, endoplasmic reticulum stress, cardiomyocyte deterioration, fibrosis, and aberrant adipogenesis over time. RNA sequencing analysis identified distinct transcriptomic profiles and crucial miRNAs associated with DMD-related cardiomyopathy. These findings suggest the potential for developing in vitro 3D human cardiac-mimics to study DMD-related cardiomyopathies.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Krzysztof Zablocki, Dariusz C. Gorecki
Summary: Muscular dystrophies are inherited neuromuscular diseases that cause progressive disability and can reduce life expectancy. Loss of dystrophin or mutations in sarcoglycan-encoding genes lead to the loss of a-sarcoglycan ecto-ATPase activity, disrupting purinergic signaling and causing chronic inflammation in dystrophic muscles. Over-activation of P2X7 purinoceptors exacerbates pathology in dystrophic muscle cells. Blocking P2X7 receptors has shown promising results in mouse models and should be considered for the treatment of muscular dystrophies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Agriculture, Dairy & Animal Science
Evy Beckers, Ine Cornelis, Sofie F. M. Bhatti, Pascale Smets, G. Diane Shelton, Ling T. Guo, Luc Peelman, Bart J. G. Broeckx
Summary: This study reports two cases of muscular hypertrophy, muscle degeneration, growth retardation, and weight loss in male Maine coon cats, caused by a nonsense variant in exon 11 of the feline DMD gene. The diagnosis of dystrophin-deficient muscular dystrophy was confirmed through clinical examination, histopathology, immunofluorescent staining, and mRNA sequencing.
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
Review
Pharmacology & Pharmacy
Sandra K. Szlapinski, David J. Hill
Summary: Normal pregnancy is associated with increased insulin resistance which is normally compensated for by an adaptive increase in pancreatic beta-cell mass. Placenta-derived hormones and growth factors play a key role in altering pancreatic morphology and function. However, maternal obesity can disrupt this adaptive process, leading to an increased risk of gestational diabetes.
CURRENT VASCULAR PHARMACOLOGY
(2021)
Article
Neurosciences
Zareen Amtul, Abdullah N. Najdat, David J. Hill, Edith J. Arany
Summary: The combination of ischemia and A beta toxicity in brain injury leads to increased neuro-inflammation, A beta deposition, and neurodegeneration. This study found regional differences in cellular degeneration post cerebral injury, with delayed FJB staining in glial cells in the cortex and corpus callosum, and early disappearance of neurons in the cortex. Additionally, A beta + ET1 rats showed extensive degeneration of neuronal cells, potentially due to exacerbated expressions of cyclooxygenase-2 in the striatum.
JOURNAL OF COMPARATIVE NEUROLOGY
(2021)
Article
Public, Environmental & Occupational Health
Rodrigo A. Lima, Gernot Desoye, David Simmons, Roland Devlieger, Sander Galjaard, Rosa Corcoy, Juan M. Adelantado, Fidelma Dunne, Juergen Harreiter, Alexandra Kautzky-Willer, Peter Damm, Elisabeth R. Mathiesen, Dorte M. Jensen, Lise-Lotte T. Andersen, Mette Tanvig, Annunziata Lapolla, Maria G. Dalfra, Alessandra Bertolotto, Urszula Manta, Ewa Wender-Ozegowska, Agnieszka Zawiejska, David J. Hill, Frank J. Snoek, Judith G. M. Jelsma, Mireille van Poppel
Summary: The study evaluated the relationship between maternal insulin resistance in pregnant women with obesity and neonatal adiposity, and found that the impact of maternal insulin resistance on neonatal adiposity depends on fetal sex and gestational stage.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2021)
Article
Endocrinology & Metabolism
Anna M. Dieberger, Gernot Desoye, Erwin Stolz, David J. Hill, Rosa Corcoy, David Simmons, Juergen Harreiter, Alexandra Kautzky-Willer, Fidelma Dunne, Roland Devlieger, Ewa Wender-Ozegowska, Agnieszka Zawiejska, Annunziata Lapolla, Maria Grazia Dalfra, Alessandra Bertolotto, Sander Galjaard, Juan M. Adelantado, Dorte Moller Jensen, Lise-Lotte Andersen, Mette Tanvig, Peter Damm, Elisabeth Reinhardt Mathiesen, Frank J. Snoek, Judith G. M. Jelsma, Mireille N. M. van Poppel
Summary: In obese pregnant women, sedentary time is more strongly associated with the glucose-insulin axis compared to moderate-to-vigorous physical activity. Pregnant women should be advised to reduce sedentary time in addition to increasing physical activity to lower the risk of developing gestational diabetes mellitus (GDM).Behavior change interventions targeting GDM risk reduction should ideally start in early or pre-pregnancy.
INTERNATIONAL JOURNAL OF OBESITY
(2021)
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
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)
Review
Biochemistry & Molecular Biology
David J. Hill
Summary: The development and plasticity of the endocrine pancreas are influenced by both intrauterine and postnatal factors. Perturbations in nutritional availability and metabolic requirements can lead to altered pancreatic function and increased risk of diabetes. Cellular pathways within the pancreas, especially paracrine interactions, play a crucial role in limiting the plasticity of insulin-producing cells.
MOLECULAR ASPECTS OF MEDICINE
(2022)
Article
Multidisciplinary Sciences
Brenda Strutt, Sandra Szlapinski, Thineesha Gnaneswaran, Sarah Donegan, Jessica Hill, Jamie Bennett, David J. Hill
Summary: The study found that insulin resistance during pregnancy can be regulated by increasing the proliferation of pancreatic beta-cell mass. The apelin receptor and its ligands are expressed at significantly higher levels in pancreatic beta-cell progenitors than in mature cells, with Apelin playing a crucial role in beta-cell proliferation. Elevated serum Apelin levels in glucose intolerant pregnant mice may be associated with an increase in placental IL-6.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Sandra Szlapinski, Brenda Strutt, Madeline Deane, Edith Arany, Jamie Bennett, David J. Hill
Summary: The study found that artemisinin and acetone both improve glucose tolerance, mainly due to acetone. In non-pregnant mice, acetone treatment can promote α-cell to β-cell conversion. However, there was no significant change in β-cell mass during pregnancy or post-partum.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
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.
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)
Article
Nutrition & Dietetics
Lilian Cristina Mendoza, Juergen Harreiter, Gernot Desoye, David Simmons, Juan M. Adelantado, Alexandra Kautzky-Willer, Agnieszka Zawiejska, Ewa Wender-Ozegowska, Annunziata Lapolla, Maria G. Dalfra, Alessandra Bertolotto, Roland Devlieger, Fidelma Dunne, Elisabeth R. Mathiesen, Peter Damm, Lisse Lotte Andersen, Dorte Moller Jensen, David Hill, Mireille Nicoline Maria van Poppel, Rosa Corcoy
Summary: This study examines the relationship between vitamin D and glucose homeostasis in pregnant women with overweight/obesity. The results show no clear beneficial associations between vitamin D compounds and glucose homeostasis measures.
Article
Biochemistry & Molecular Biology
Julia T. Stadler, Mireille N. M. van Poppel, Christian Wadsack, Michael Holzer, Anja Pammer, David Simmons, David Hill, Gernot Desoye, Gunther Marsche
Summary: Pregravid obesity is a major risk factor for pregnancy complications and cardiovascular events in children. However, the biological mechanisms underlying these adverse outcomes are not well understood. Impairment of HDL function in obese and GDM-complicated pregnancies may have long-term effects on maternal and offspring health.