Genetic mutation could worsen heart function in Duchenne muscular dystrophy patients

(UT Southwestern Medical Center) DALLAS - Nov. 4, 2020 - A mutation in the gene that causes cystic fibrosis may accelerate heart function decline in those with Duchenne muscular dystrophy (DMD), a new study by UT Southwestern researchers suggests. The findings, published online recently in theJournal of the American Heart Association, could help doctors develop new strategies to preserve heart function in this population, potentially extending patients' lives.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news

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Conclusion To conclude, this study suggests a preserved plasticity in the skeletal muscle of a patient with MELAS. More importantly, Resistance Training appears to be a safe and effective method to increase skeletal muscle function in this patient population, and this effect is mediated by both neuromuscular and mitochondrial adaptations. However, particular attention and caution is needed in the interpretation of the data of this single case study and further studies are warranted including larger sample of patients. Ethics Statement For this case study the participant caregiver provided written informed consent. Auth...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Reena Goswami1, Gayatri Subramanian2, Liliya Silayeva1, Isabelle Newkirk1, Deborah Doctor1, Karan Chawla2, Saurabh Chattopadhyay2, Dhyan Chandra3, Nageswararao Chilukuri1 and Venkaiah Betapudi1,4* 1Neuroscience Branch, Research Division, United States Army Medical Research Institute of Chemical Defense, Aberdeen, MD, United States 2Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States 3Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States 4Department of Physiology and Biophysics, Case Western Reserve University, Clev...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
In conclusion, a large number of approaches based on targeting microRNAs and long non-coding RNAs are expected in the field of molecular diagnosis and therapy, with a facilitated technological transfer in the case of rare genetic diseases, in virtue of the existing regulation concerning these diseases.
Source: Molecular Diagnosis and Therapy - Category: Molecular Biology Source Type: research
A Chinese scientist shocked the scientific community a couple of days ago with the announcement of having modified the very blueprint of life. If his claims are true, he tried to bestow two baby girls the ability to resist possible future infections with HIV. The outrage shows that humanity is not prepared to utilize the power of gene editing on embryos yet. We have no idea about the biological consequences, and we haven’t tackled the necessary legal and ethical issues. Genes to become toys of the “Gods”? Humanity has come a long way since Aldous Huxley pinned down how methods of genetic engineering, bio...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Bioethics Future of Medicine Genomics designer babies designer baby Gene gene editing genes Genome genome sequencing Health Healthcare healthcare system Innovation technology Source Type: blogs
Conclusion: In childhood age group, pulmonary emboli should be considered as a differential diagnosis of acute chest pain and diagnostic examinations should be planned.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Paediatric bronchology Source Type: research
(Rice University) Rice University bioengineers have combined a virus that infects moths with magnetic nanoparticles to create a potential new therapy for inherited genetic diseases like muscular dystrophy, sickle cell, cystic fibrosis, spinal muscular atrophy and some forms of cancer.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news
(American College of Medical Genetics and Genomics) The last decade has seen tremendous progress in the development of new drugs for patients with genetic disorders, including Cystic Fibrosis, many lysosomal storage disorders (Gaucher disease, Fabry disease and others) and most recently, Duchenne Muscular Dystrophy and Spinal Muscular Atrophy (SMA). The American College of Medical Genetics and Genomics (ACMG) is concerned with the staggering projected cost of these new treatments.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Publication date: 15 October 2018Source: Biosensors and Bioelectronics, Volume 117Author(s): Shimaa Eissa, Haya Abdulkarim, Majed Dasouki, Hamoud Al Mousa, Rand Arnout, Bandar Al Saud, Anas Abdel Rahman, Mohammed ZourobAbstractMultiplexed biosensors hold great promise for early diagnosis of diseases where the detection of multiple biomarkers is required. Hyper Immunoglobulin E syndromes (HIES) are rare primary immunodeficiency disorders associated with mutations either in the signal transducer and activator of transcription 3 (STAT3), dedicator of cytokinesis 8 DOCK8) or phosphoglucomutase 3 (PGM3) genes. Yet, the diagnosi...
Source: Biosensors and Bioelectronics - Category: Biotechnology Source Type: research
Publication date: 15 October 2018Source: Biosensors and Bioelectronics, Volume 117Author(s): Shimaa Eissa, Nawal Alshehri, Mai Abduljabbar, Anas M. Abdel Rahman, Majed Dasouki, Imran Y. Nizami, Mohammad A. Al-Muhaizea, Mohammed ZourobAbstractSimultaneous and point-of-care detection of multiple protein biomarkers has significant impact on patient care. Spinal Muscular Atrophy (SMA), Cystic Fibrosis (CF) and Duchenne Muscular Dystrophy (DMD) are well known progressive hereditary disorders associated with increased morbidity as well as mortality. Therefore, rapid detection of biomarkers specific for these three disorders in n...
Source: Biosensors and Bioelectronics - Category: Biotechnology Source Type: research
Publication date: 15 October 2018Source: Biosensors and Bioelectronics, Volume 117Author(s): Shimaa Eissa, Haya Abdulkarim, Majed Dasouki, Hamoud Al Mousa, Rand Arnout, Bandar Al Saud, Anas Abdel Rahman, Mohammed ZourobAbstractMultiplexed biosensors hold great promise for early diagnosis of diseases where the detection of multiple biomarkers is required. Hyper Immunoglobulin E syndromes (HIES) are rare primary immunodeficiency disorders associated with mutations either in the signal transducer and activator of transcription 3 (STAT3), dedicator of cytokinesis 8 DOCK8) or phosphoglucomutase 3 (PGM3) genes. Yet, the diagnosi...
Source: Biosensors and Bioelectronics - Category: Biotechnology Source Type: research
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