Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure
AbstractAdaptation of humans to challenging environmental conditions, such as extreme temperature, malnutrition, or hypoxia, is an interesting phenomenon for both basic and applied research. Identification of the genetic factors contributing to human adaptation to these conditions enhances our understanding of the underlying molecular and physiological mechanisms. In our study, we analyzed the exomes of 22 high altitude mountaineers to uncover genetic variants contributing to hypoxic adaptation. To our surprise, we identified two putative loss-of-function variants, rs1385101139 inRTEL1 and rs1002726737 inCOL6A1 in two extr...
Source: Physiological Reports - April 24, 2024 Category: Physiology Authors: Evgeniia M. Maksiutenko,
Valeriia Merkureva,
Yury A. Barbitoff,
Victoria V. Tsay,
Mikhail V. Aseev,
Andrey S. Glotov,
Oleg S. Glotov Tags: SHORT REPORT Source Type: research
Differential metabolic secretion between mdx mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development
In this study, we aimed to use metabolomics to better understand the rarity of SCS development in mdx mice. Gas chromatography-mass spectrometry was employed to compare the metabolic profiles of spontaneously developed SCS and RMS tumors from mdx mice, and metabolite supplementation assays and silencing experiments were used to assess the effects of metabolic differences in SCS tumor-derived cells. The levels of 75 metabolites exhibited differences between RMS and SCS, 25 of which were significantly altered. Further characterization revealed downregulation of non-essential amino acids, including alanine, in SCS tumors. Ala...
Source: Am J Physiol Cell Ph... - April 22, 2024 Category: Cytology Authors: Emma Eko Tabe Niba Hiroyuki Awano Noriyuki Nishimura Hiroshi Koide Masafumi Matsuo Masakazu Shinohara Source Type: research
Differential metabolic secretion between mdx mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development
In this study, we aimed to use metabolomics to better understand the rarity of SCS development in mdx mice. Gas chromatography-mass spectrometry was employed to compare the metabolic profiles of spontaneously developed SCS and RMS tumors from mdx mice, and metabolite supplementation assays and silencing experiments were used to assess the effects of metabolic differences in SCS tumor-derived cells. The levels of 75 metabolites exhibited differences between RMS and SCS, 25 of which were significantly altered. Further characterization revealed downregulation of non-essential amino acids, including alanine, in SCS tumors. Ala...
Source: American Journal of Physiology. Cell Physiology - April 22, 2024 Category: Cytology Authors: Emma Eko Tabe Niba Hiroyuki Awano Noriyuki Nishimura Hiroshi Koide Masafumi Matsuo Masakazu Shinohara Source Type: research
Persistent inflammation and nutritional status in duchenne muscular dystrophy
This study aims to identify the inflammatory profile of DMD patients and evaluate associations between clinical and nutritional variables. Methods: We performed a cross-sectional study nested in a cohort to obtain sociodemographics, illness time, use of medications, and supplement data through interviews and the patient's medical records. Then, we assessed the relationships between illness time, cytokines, and nutritional status. (Source: Clinical Nutrition ESPEN)
Source: Clinical Nutrition ESPEN - April 19, 2024 Category: Nutrition Authors: Ádila Danielly de Souza Costa, Karina Marques Vermeulen-Serpa, Kívia Maria Batista Marinho, Caroline Addison Carvalho Xavier de Medeiros, Aurigena Antunes de Araújo, Mário Emílio Teixeira Dourado-Junior, José Brandão-Neto, Bruna Leal Lima Maciel, S Source Type: research
Computer-Aided Diagnosis of Duchenne Muscular Dystrophy Based on Texture Pattern Recognition on Ultrasound Images Using Unsupervised Clustering Algorithms and Deep Learning
The feasibility of using deep learning in ultrasound imaging to predict the ambulatory status of patients with Duchenne muscular dystrophy (DMD) was previously explored for the first time. The present study further used clustering algorithms for the texture reconstruction of ultrasound images of DMD data sets and analyzed the difference in echo intensity between disease stages. (Source: Ultrasound in Medicine and Biology)
Source: Ultrasound in Medicine and Biology - April 18, 2024 Category: Radiology Authors: Ai-Ho Liao, Chih-Hung Wang, Chong-Yu Wang, Hao-Li Liu, Ho-Chiao Chuang, Wei-Jye Tseng, Wen-Chin Weng, Cheng-Ping Shih, Po-Hsiang Tsui Tags: Original Contribution Source Type: research
Respiratory comorbidities and treatments in Duchenne muscular dystrophy: impact on life expectancy and causes of death
ConclusionsOur results highlight the importance of identifying subclinical hypoventilation in a timely manner and the importance of an active treatment regime upon clinical signs of pneumonia. (Source: Journal of Neurology)
Source: Journal of Neurology - April 17, 2024 Category: Neurology Source Type: research
Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice
Conclusions
These guidelines provide practical, reasoned recommendations for all those managing day-to-day and acute respiratory care in children and adults with DMD. The hope is that this will support patients and healthcare professionals in accessing high standards of care across the UK. (Source: Thorax)
Source: Thorax - April 15, 2024 Category: Respiratory Medicine Authors: Childs, A.-M., Turner, C., Astin, R., Bianchi, S., Bourke, J., Cunningham, V., Edel, L., Edwards, C., Farrant, P., Heraghty, J., James, M., Massey, C., Messer, B., Michel Sodhi, J., Murphy, P. B., Schiava, M., Thomas, A., Trucco, F., Guglieri, M. Tags: Open access, Thorax State of the art review Source Type: research
Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene
Duchenne muscular dystrophy (DMD) is an X-linked, progressive neuromuscular disease caused by mutations in the DMD gene that lead to an absence of functional dystrophin protein [1,2]. DMD affects 1 in 3,600 to 6,000 male neonates worldwide [3,4]. Patients with DMD typically experience motor delays and muscle weakness between 2 and 7 years of age and often have decreased upper limb function, lose ambulation, and become wheelchair-dependent in their early teens [5,6]. Most people with DMD die of cardiac or respiratory failure in their twenties or thirties [1,7,8]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 13, 2024 Category: Neurology Authors: Kay E Davies, Julie Vogt Tags: Case report Source Type: research
Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis
Conclusions
Low-quality evidence suggests that strength training, with or without other exercise interventions, may improve perceived exertion, distal upper limb function, static and dynamic balance, gait and well-being in MD. Although more robust and larger studies are needed, current evidence supports the inclusion of strength training in MD treatment, as it was found to be safe. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - April 12, 2024 Category: Neurosurgery Authors: Leone, E., Pandyan, A., Rogers, A., Kulshrestha, R., Hill, J., Philp, F. Tags: Open access Neuromuscular Source Type: research
Five multivariate Duchenne muscular dystrophy progression models bridging six-minute walk distance and MRI relaxometry of leg muscles
AbstractThe study aimed to provide quantitative information on the utilization of MRI transverse relaxation time constant (MRI-T2) of leg muscles in DMD clinical trials by developing multivariate disease progression models of Duchenne muscular dystrophy (DMD) using 6-min walk distance (6MWD) and MRI-T2. Clinical data were collected from the prospective and longitudinalImagingNMD study. Disease progression models were developed by a nonlinear mixed-effect modeling approach. Univariate models of 6MWD and MRI-T2 of five muscles were developed separately. Age at assessment was the time metric. Multivariate models were develope...
Source: Journal of Pharmacokinetics and Pharmacodynamics - April 12, 2024 Category: Drugs & Pharmacology Source Type: research
Optimization of Xenografting Methods for Generating Human Skeletal Muscle in Mice
Cell Transplant. 2024 Jan-Dec;33:9636897241242624. doi: 10.1177/09636897241242624.ABSTRACTXenografts of human skeletal muscle generated in mice can be used to study muscle pathology and to test drugs designed to treat myopathies and muscular dystrophies for their efficacy and specificity in human tissue. We previously developed methods to generate mature human skeletal muscles in immunocompromised mice starting with human myogenic precursor cells (hMPCs) from healthy individuals and individuals with facioscapulohumeral muscular dystrophy (FSHD). Here, we examine a series of alternative treatments at each stage in order to ...
Source: Cell Transplantation - April 11, 2024 Category: Cytology Authors: Andrea O'Neill Anna Llach Martinez Amber L Mueller Weiliang Huang Anthony Accorsi Maureen A Kane David Eyerman Robert J Bloch Source Type: research
The Role of TGF-beta Signaling in Muscle Atrophy, Sarcopenia and Cancer Cachexia
Gen Comp Endocrinol. 2024 Apr 9:114513. doi: 10.1016/j.ygcen.2024.114513. Online ahead of print.ABSTRACTSkeletal muscle, comprising a significant proportion (40 to 50 percent) of total body weight in humans, plays a critical role in maintaining normal physiological conditions. Muscle atrophy occurs when the rate of protein degradation exceeds protein synthesis. Sarcopenia refers to age-related muscle atrophy, while cachexia represents a more complex form of muscle wasting associated with various diseases such as cancer, heart failure, and AIDS. Recent research has highlighted the involvement of signaling pathways, includin...
Source: Cancer Control - April 11, 2024 Category: Cancer & Oncology Authors: Xin-Qiang Lan Cheng-Jie Deng Qi-Quan Wang Li-Min Zhao Bao-Wei Jiao Yang Xiang Source Type: research
The Role of TGF- β Signaling in Muscle Atrophy, Sarcopenia and Cancer Cachexia
Gen Comp Endocrinol. 2024 Apr 9:114513. doi: 10.1016/j.ygcen.2024.114513. Online ahead of print.ABSTRACTSkeletal muscle, comprising a significant proportion (40 to 50 percent) of total body weight in humans, plays a critical role in maintaining normal physiological conditions. Muscle atrophy occurs when the rate of protein degradation exceeds protein synthesis. Sarcopenia refers to age-related muscle atrophy, while cachexia represents a more complex form of muscle wasting associated with various diseases such as cancer, heart failure, and AIDS. Recent research has highlighted the involvement of signaling pathways, includin...
Source: General and Comparative Endocrinology - April 11, 2024 Category: Endocrinology Authors: Xin-Qiang Lan Cheng-Jie Deng Qi-Quan Wang Li-Min Zhao Bao-Wei Jiao Yang Xiang Source Type: research
Optimization of Xenografting Methods for Generating Human Skeletal Muscle in Mice
Cell Transplant. 2024 Jan-Dec;33:9636897241242624. doi: 10.1177/09636897241242624.ABSTRACTXenografts of human skeletal muscle generated in mice can be used to study muscle pathology and to test drugs designed to treat myopathies and muscular dystrophies for their efficacy and specificity in human tissue. We previously developed methods to generate mature human skeletal muscles in immunocompromised mice starting with human myogenic precursor cells (hMPCs) from healthy individuals and individuals with facioscapulohumeral muscular dystrophy (FSHD). Here, we examine a series of alternative treatments at each stage in order to ...
Source: Cell Transplantation - April 11, 2024 Category: Cytology Authors: Andrea O'Neill Anna Llach Martinez Amber L Mueller Weiliang Huang Anthony Accorsi Maureen A Kane David Eyerman Robert J Bloch Source Type: research
