Review
Biochemistry & Molecular Biology
Ahyoung Lee, Jiwon Moon, Jin Yu, Changwon Kho
Summary: This review discusses the clinical significance of microRNAs as potential biomarkers and therapeutic targets for DMD and DMD cardiomyopathy as examples of dystrophinopathies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
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
Clinical Neurology
Kristin M. Conway, Amber Gedlinske, Katherine D. Mathews, Seth Perlman, Nicholas Johnson, Russell Butterfield, Man Hung, Jerry Bounsanga, Dennis Matthews, Joyce Oleszek, Paul A. Romitti
Summary: The study found associations between loss of independent ambulation, corticosteroid use, and scoliosis in childhood-onset dystrophinopathy. Individuals with loss of independent ambulation and without corticosteroid use had higher risks of developing scoliosis, suggesting potential benefits of corticosteroid use in delaying spinal curvature progression and need for scoliosis surgery.
Article
Clinical Neurology
Chang Liu, Jiajian Ma, Yanyu Lu, Yunlong Lu, Jiahui Mai, Li Bai, Yikang Wang, Yilei Zheng, Meng Yu, Yiming Zheng, Jianwen Deng, Lingchao Meng, Wei Zhang, Zhaoxia Wang, Yun Yuan, Zhiying Xie
Summary: This study investigated the clinical, pathological, and genetic characteristics of Chinese female dystrophinopathy and identified possible correlations among them. The findings provide important insights into the disease.
NEUROMUSCULAR DISORDERS
(2023)
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.
Review
Genetics & Heredity
Dorota Gruber, Michele Lloyd-Puryear, Niki Armstrong, Mena Scavina, Norma P. Tavakoli, Amy M. Brower, Michele Caggana, Wendy K. Chung
Summary: Duchenne muscular dystrophy (DMD) is a common form of muscular dystrophy with a high prevalence among males. Recent advancements in therapies and testing methods have led to stronger evidence supporting newborn screening for DMD, including females. A pilot study conducted in New York State focused on screening and diagnosis of both male and female carriers, leading to the development of algorithms for identifying at-risk individuals.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(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
Katharine C. Simon, Paola Malerba, Neal Nakra, Amy Harrison, Sara C. Mednick, Marni Nagel
Summary: This study measured slow oscillations in Duchenne and Becker muscular dystrophy male patients and found a significant decline in slow oscillation density with age. When patients were grouped by age, a decline in the rate and amplitude of slow oscillations was observed.
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
Medicine, General & Internal
Yuta Horikoshi, Norifumi Kuratani, Ken Tateno, Hiroshi Hoshijima, Tina Nakamura, Tsutomu Mieda, Katsushi Doi, Hiroshi Nagasaka
Summary: The use of remimazolam in pediatric patients with DMD undergoing general anesthesia was shown to be safe and effective, with careful monitoring of drug dosages and anesthesia depth being essential during the procedure.
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
Clinical Neurology
Silvia Torelli, Domenic Scaglioni, Valentina Sardone, Matthew J. Ellis, Joana Domingos, Adam Jones, Lucy Feng, Darren Chambers, Deborah M. Eastwood, France Leturcq, Rabah Ben Yaou, Andoni Urtizberea, Pascal Sabouraud, Christine Barnerias, Tanya Stojkovic, Enzo Ricci, Maud Beuvin, Gisele Bonne, Caroline A. Sewry, Tracey Willis, Richa Kulshrestha, Giorgio Tasca, Rahul Phadke, Jennifer E. Morgan, Francesco Muntoni
Summary: This study reports on dystrophin expression patterns using Western blotting and image analysis in skeletal muscle biopsies of DMD, BMD, and intermediate DMD/BMD patients. Results showed significant correlation between different methodologies and significant inter- and intradisease heterogeneity of dystrophin expression patterns in patients.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2021)
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)
Article
Medicine, General & Internal
Cinthya J. Zepeda-Mendoza, Jordan E. Bontrager, Camille F. Fisher, Amber McDonald, Jaya K. George-Abraham, Linda Hasadsri
Summary: A 2-month-old male patient with a duplication of DMD exons 1-7, initially classified as pathogenic, was reclassified as likely benign based on molecular breakpoint analysis by our laboratory. The patient continues to develop normally with decreased creatine phosphokinase (CK), supporting the reclassification.
CLINICAL CASE REPORTS
(2022)
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)