Article
Biochemistry & Molecular Biology
Zsuzsanna Szucs, Eva Pinti, Iren Haltrich, Orsolya Palne Szen, Tibor Nagy, Endre Barta, Gabor Mehes, Laszlo Bidiga, Olga Torok, Aniko Ujfalusi, Katalin Koczok, Istvan Balogh
Summary: Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy, typically affecting males. This study presents an ultra-rare manifestation of DMD in a female patient.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Alicja Starosta, Patryk Konieczny
Summary: DMD is a devastating X-linked disease characterized by progressive skeletal muscle wasting and heart dysfunction. Therapeutic strategies involving epigenetic modifications to modulate signal pathways have emerged as promising approaches. Taking a systemic view of DMD as a disease affecting muscle fibers and communication between different cell types may lead to holistic treatments that restore proper signal transmission and gene expression.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Article
Multidisciplinary Sciences
Maria Sofia Falzarano, Martina Mietto, Fernanda Fortunato, Marianna Farne, Fernanda Martini, Pierpaolo Ala, Rita Selvatici, Francesco Muntoni, Alessandra Ferlini
Summary: This study investigated the transcription dynamics and spatial localization of the dystrophin (DMD) gene in DMD patients. The results showed significantly reduced DMD mRNA amount in the patients' cells and muscle biopsies, with a shift towards localization in the nuclei. This abnormal compartmentalization of mutant DMD mRNA contributes to the poor abundance and availability of dystrophin messenger in the cytoplasm.
SCIENTIFIC REPORTS
(2023)
Article
Psychology, Multidisciplinary
Rahul Tyagi, Harshita Arvind, Manoj Goyal, Akshay Anand, Manju Mohanty
Summary: The neuropsychological profile of Indian DMD subjects is not well understood and requires evaluation. Results show poor verbal and visual memory profiles in DMD patients, with working memory deficits being a crucial element of cognitive functioning. Working memory interventions may help improve neuropsychological profiles in DMD cases.
FRONTIERS IN PSYCHOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Natalie Pluta, Arpad von Moers, Astrid Pechmann, Werner Stenzel, Hans-Hilmar Goebel, David Atlan, Beat Wolf, Indrajit Nanda, Ann-Kathrin Zaum, Simone Rost
Summary: This article presents two young girls with severe muscle weakness, muscular dystrophies, and high creatine kinase levels. Despite standard molecular diagnostics, the genetic cause of their conditions remained unknown. However, whole-genome sequencing revealed reciprocal translocations between their X chromosomes and chromosome 5 and chromosome 19, respectively. These findings underscore the importance of accurate clinical data combined with histopathological analysis in identifying genetic factors responsible for complex genetic constellations in Duchenne muscular dystrophy (DMD).
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Elena Gargaun, Sestina Falcone, Guilhem Sole, Julien Durigneux, Andoni Urtizberea, Jean Marie Cuisset, Sofia Benkhelifa-Ziyyat, Laura Julien, Anne Boland, Florian Sandron, Vincent Meyer, Jean Francois Deleuze, David Salgado, Jean-Pierre Desvignes, Christophe Beroud, Anatole Chessel, Alexia Blesius, Martin Krahn, Nicolas Levy, France Leturcq, France Pietri-Rouxel
Summary: This study found that long noncoding RNAs play important roles in Duchenne and Becker muscular dystrophy, particularly in regulating myocyte proliferation and differentiation with potential therapeutic implications. The research suggests that lncRNA44s2 may serve as an accelerator in muscle differentiation process and is associated with a favorable clinical phenotype.
Article
Oncology
Nancy Alnassar, Malgorzata Borczyk, Georgia Tsagkogeorga, Michal Korostynski, Namshik Han, Dariusz C. Gorecki
Summary: Mutations in the DMD gene cause Duchenne muscular dystrophy (DMD), but recent research shows that reduced DMD expression is also associated with various malignancies. The downregulation of DMD in tumors is correlated with reduced patient survival and tumor stage. These findings challenge the current understanding of dystrophin expression and suggest a broader significance of the DMD gene beyond DMD.
Review
Biochemistry & Molecular Biology
Ankita Tulangekar, Tamar E. Sztal
Summary: Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder caused by mutations in the dystrophin gene. Lack of functional dystrophin protein leads to fragile muscle membranes and increased susceptibility to damage during contraction. Inflammation plays a crucial role in exacerbating muscle damage and impairing regeneration in DMD patients, with neutrophils releasing inflammatory compounds that prolong the inflammatory response.
Article
Genetics & Heredity
Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino
Summary: Dystrophinopathy is a disease caused by alterations in the DMD gene. In this study, a combined laboratory and computational analysis approach was used to identify disease-causing genomic variants and regulatory mechanisms underlying abnormal DMD transcript generation in genetically undiagnosed patients. Abnormal DMD transcripts were detected in the majority of cases, with exonization of intronic sequences, exon skipping, aberrant splicing, polyadenylation, and transcription termination identified as the underlying mechanisms. The findings of this study have important implications for therapeutic options for patients with Dystrophinopathy.
Article
Veterinary Sciences
Sarah M. Schneider, Garett T. Sansom, Lee-Jae Guo, Shinji Furuya, Brad R. Weeks, Joe N. Kornegay
Summary: This study systematically assessed cardiac lesions in carrier dogs, GRMD dogs, and normal dogs, and found that quantitative analysis of the cross-sectional area of fibrosis can distinguish the health status of different groups of dogs. The features identified in GRMD dogs are compatible with those of DMD, validating GRMD as an effective model for studying cardiomyopathy.
FRONTIERS IN VETERINARY SCIENCE
(2022)
Article
Chemistry, Multidisciplinary
Wiktoria Wojnicz, Agnieszka Sobierajska-Rek, Bartlomiej Zagrodny, Michal Ludwicki, Joanna Jablonska-Brudlo, Katarzyna Forysiak
Summary: This study presents a new method for motion quantitative analysis in DMD patients. The results show that different levels of external mass influence the performance of upper limb movements and are statistically significant.
APPLIED SCIENCES-BASEL
(2022)
Review
Oncology
Leanne Jones, Michael Naidoo, Lee R. Machado, Karen Anthony
Summary: Mutation of the DMD gene causes muscular dystrophies, but it is also implicated in the development of major cancer types. Disruption of the balance of DMD gene products in cancer may play a key role in tumorigenesis. Further study into the potential role of DMD gene products in cancer is needed to develop new therapeutics.
Review
Biotechnology & Applied Microbiology
Lam Chung Liang, Nadiah Sulaiman, Muhammad Dain Yazid
Summary: Duchenne muscular dystrophy (DMD) is a severe form of muscle dystrophy that currently lacks effective treatment options. Gene therapy has been proposed as a potential solution, but it also faces limitations and challenges.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Cedric Happi Mbakam, Joel Rousseau, Guillaume Tremblay, Pouire Yameogo, Jacques P. Tremblay
Summary: Prime editing, derived from the CRISPR/Cas9 discovery, allows for the modification of selected nucleotides in a specific gene. It can be used to correct point mutations in the DMD gene.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pharmacology & Pharmacy
Malgorzata Myszka, Olga Mucha, Paulina Podkalicka, Urszula Wasniowska, Jozef Dulak, Agnieszka Loboda
Summary: This study investigated the effects of hydrogen sulfide (H2S) on muscle pathology in dystrophin-deficient mice. The results showed that H2S reduced muscle damage markers, decreased oxidative stress, regulated the expression of disease-related molecules, and promoted angiogenesis. These findings suggest that H2S could be a promising therapeutic factor for Duchenne muscular dystrophy (DMD).
EUROPEAN JOURNAL OF PHARMACOLOGY
(2023)
Article
Clinical Neurology
Karlijn Bouman, Jeroen L. M. van Doorn, Jan T. Groothuis, Peter J. Wijkstra, Baziel G. M. van Engelen, Corrie E. Erasmus, Jonne Doorduin, Nicol C. Voermans
Summary: The majority of LAMA2-MD and all SELENON-RM patients had respiratory impairment. SELENON-RM patients showed lower respiratory function which was progressive, more prevalent mechanical ventilation, and more severe diaphragm atrophy and dysfunction than LAMA2-MD patients. Spirometry (FVC%, dVC) and respiratory muscle strength tests (SNIP) are useful in clinical care and as outcome measure in clinical trials.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Oliviero Bruni, Maria Breda, Emanuela Malorgio, Paolo Brambilla, Flavia Ceschin, Andrea Di Pilla, Maurizio Elia, Raffaele Ferri
Summary: This study aimed to describe the use of melatonin by Italian pediatricians in healthy children with chronic insomnia. The results showed that a high percentage of pediatricians prescribed melatonin, especially in children aged 1-2 years. The most common dosage was 1 mg/day and it was usually recommended to be taken 30 minutes before bedtime. Melatonin was often combined with sleep hygiene and was found to be effective in reducing difficulties falling asleep.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Pavel Seeman, Jana Zarubova, Petr Marusic, Pavel Krsek, Hana Krijtova, Alena Musilova, Petra Lassuthova
Summary: In this study, whole exome sequencing (WES) was performed to identify causal variants for developmental and epileptic encephalopathies (DEEs) in patients whose genetic diagnosis was not determined by gene panel testing. The results showed that WES can successfully identify disease-causing variants, even after inconclusive gene panel testing. Detailed clinical evaluations and phenotype-genotype correlation studies were conducted to better understand the rare subtypes of DEEs.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
