Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle
J Biosci. 2024;49:27.ABSTRACTRare muscular disorders (RMDs) are disorders that affect a small percentage of the population. The disorders which are attributed to genetic mutations often manifest in the form of progressive weakness and atrophy of skeletal and heart muscles. RMDs includes disorders such as Duchenne muscular dystrophy (DMD), GNE myopathy, spinal muscular atrophy (SMA), limb girdle muscular dystrophy, and so on. Due to the infrequent occurrence of these disorders, development of therapeutic approaches elicits less attention compared with other more prevalent diseases. However, in recent times, improved underst...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Divya Rao Munia Ganguli Source Type: research
Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context
J Biosci. 2024;49:36.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2, that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-depende...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Ashutosh Aasdev Sreelekshmi R S V Rajesh Iyer Shivranjani C Moharir Source Type: research
Motor and neurocognitive profiles of children with symptomatic spinal muscular atrophy type 1 with two copies of SMN2 before and after treatment: a longitudinal observational study
IntroductionSpinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. In clinical studies, gene replacement therapy with onasemnogene abeparvovec (formerly AVXS-101, Zolgensma®, Novartis) was efficacious in improving motor functioning in children with SMA. However, its effects on cognitive and language skills are largely unknown.MethodsThis longitudinal observational study evaluated changes in motor and neurocognitive functioning over a 1-year period after administration of onasemnogene abeparvovec in 12 symptomatic SMA type 1 patients with two copies of S...
Source: Frontiers in Neurology - February 21, 2024 Category: Neurology Source Type: research
RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability. Over the l... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 19, 2024 Category: Internal Medicine Authors: Maria Grazia Cattinari, Menc ía de Lemus and Eduardo Tizzano Tags: Research Source Type: research
Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction
We aimed to describe the experience of a single neuromuscular center in Germany in treating adult spinal muscular atrophy (SMA) patients with risdiplam and to analyze motor function and treatment satisfaction ... (Source: BMC Neurology)
Source: BMC Neurology - February 17, 2024 Category: Neurology Authors: Bogdan Bjelica, Camilla Wohnrade, Iraima Cespedes, Alma Osmanovic, Olivia Schreiber-Katz and Susanne Petri Tags: Research Source Type: research
RNA therapeutics for treatment of diabetes
Prog Mol Biol Transl Sci. 2024;203:287-300. doi: 10.1016/bs.pmbts.2023.12.013. Epub 2024 Jan 25.ABSTRACTDiabetes is an ongoing global problem as it affects health of more than 537 million people around the world. Diabetes leaves many serious complications that affect patients and can cause death if not detected and treated promptly. Some of the complications of diabetes include impaired vascular system, increased risk of stroke, neurological diseases that cause pain and numbness, diseases related to the retina leading to blindness, and other complications affecting kidneys, heart failure, muscle weakness, muscle atrophy. A...
Source: Mol Biol Cell - February 15, 2024 Category: Molecular Biology Authors: Yen Vy Nguyen Thi Thuy Tien Ho Safak Caglayan Thamil Selvee Ramasamy Dinh-Toi Chu Source Type: research
RNA therapeutics for treatment of diabetes
Prog Mol Biol Transl Sci. 2024;203:287-300. doi: 10.1016/bs.pmbts.2023.12.013. Epub 2024 Jan 25.ABSTRACTDiabetes is an ongoing global problem as it affects health of more than 537 million people around the world. Diabetes leaves many serious complications that affect patients and can cause death if not detected and treated promptly. Some of the complications of diabetes include impaired vascular system, increased risk of stroke, neurological diseases that cause pain and numbness, diseases related to the retina leading to blindness, and other complications affecting kidneys, heart failure, muscle weakness, muscle atrophy. A...
Source: Mol Biol Cell - February 15, 2024 Category: Molecular Biology Authors: Yen Vy Nguyen Thi Thuy Tien Ho Safak Caglayan Thamil Selvee Ramasamy Dinh-Toi Chu Source Type: research
Risdiplam improves subjective swallowing quality in non-ambulatory adult patients with 5q-spinal muscular atrophy despite advanced motor impairment
ConclusionsThe improvement in subjective swallowing quality under risdiplam treatment, despite an advanced disease stage with severe motor deficits, strengthens the importance of a standardized bulbar assessment in addition to established motor scores. This may reveal relevant treatment effects and help individualize treatment decisions in the future. (Source: Journal of Neurology)
Source: Journal of Neurology - February 15, 2024 Category: Neurology Source Type: research
Early treatment of type II SMA slows rate of progression of scoliosis
Conclusion
This study highlights that pharmacological treatment, if initiated early, may slow down the progression of scoliosis in type II SMA patients. Larger studies are warranted to further investigate the effectiveness of individual pharmacological treatment on scoliosis progression in this patient population. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Coratti, G., Lenkowicz, J., Pera, M. C., D'Amico, A., Bruno, C., Gulli, C., Brolatti, N., Pedemonte, M., Antonaci, L., Ricci, M., Capasso, A., Cicala, G., Cutrona, C., de Sanctis, R., Carnicella, S., Forcina, N., Cateruccia, M., Damasio, M. B., Labianca, Tags: Neuromuscular Source Type: research
MECP2-related disorders while gene-based therapies are on the horizon
The emergence of new genetic tools has led to the discovery of the genetic bases of many intellectual and developmental disabilities. This creates exciting opportunities for research and treatment development, and a few genetic disorders (e.g., spinal muscular atrophy) have recently been treated with gene-based therapies. MECP2 is found on the X chromosome and regulates the transcription of thousands of genes. Loss of MECP2 gene product leads to Rett Syndrome, a disease found primarily in females, and is characterized by developmental regression, motor dysfunction, midline hand stereotypies, autonomic nervous system dysfun...
Source: Frontiers in Genetics - February 12, 2024 Category: Genetics & Stem Cells Source Type: research
Spinal muscular atrophy type 1: A fatal case in a 1 ‐year‐old girl with delayed diagnosis
Key Clinical MessageSpinal muscular atrophy (SMA) is a growing clinical concern, necessitating higher awareness and early detection. This case study focuses on the difficulties and advances in detecting and treating SMA. It emphasizes the value of early detection, interdisciplinary care, genetic testing, and novel therapeutics in terms of improving outcomes.AbstractSpinal muscular atrophy type 1 (SMA Type 1) is a rare genetic neuromuscular disease characterized by muscle atrophy and weakness. This case report presents the fatal outcome of a 1-year-old girl with delayed diagnosis of SMA Type 1. The child exhibited symptoms ...
Source: Clinical Case Reports - February 10, 2024 Category: General Medicine Authors: Saira Batool Rizvi,
Hafsa Ahmed,
Arbaz Zaman,
Ameenudeen Mohammed Nushrath Ali,
Hussain Haider Shah,
Sameer Abdul Rauf,
Tirth Dave Tags: CASE REPORT Source Type: research
Clinical characteristics and anaesthetic management of severe scoliosis patients with spinal muscular atrophy: case series
CONCLUSION: Multidisciplinary consultation, lung-protective ventilation strategy, appropriate anaesthetic drugs and reasonable blood transfusion scheme and postoperative monitoring were important in anaesthesia, intraoperative and postoperative periods in the patients of severe scoliosis with spinal muscular atrophy.PMID:38333301 | PMC:PMC10849356 | DOI:10.1097/MS9.0000000000001562 (Source: Annals of Medicine)
Source: Annals of Medicine - February 9, 2024 Category: Internal Medicine Authors: Lai Wang Yi Du Na Huang Na Yin Junming Du Junlin Yang Lai Jiang Yanfei Mao Source Type: research
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries
This study demonstrates that an appropriate cut-off value is an important prerequisite for establishing a semi-quantitative method to determine the SMN1 copy numbers. Compared to conventional methods, our ddPCR assay is low-cost, highly accurate, and has full potential for application in population spinal muscular atrophy carriers screening.PMID:38325644 | DOI:10.1016/j.ejmg.2024.104921 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 7, 2024 Category: Genetics & Stem Cells Authors: Yu Jiang Zhenyu Luo Wenrong Wang Xingxiu Lu ZhongMin Xia Jieqiong Xie Mei Lu Lili Wu Yulin Zhou Qiwei Guo Source Type: research
‘Reading the palm’ – A pilot study of grip and finger flexion strength as an outcome measure in 5q spinal muscular atrophy
Innovative RNA modifying and gene replacement therapies are currently revolutionizing the therapeutic landscape in 5q-associated spinal muscular atrophy (SMA). In order to provide individual recommendations for choice of treatment and therapy (dis-) continuation, objective outcome measures are needed. The purpose of this study was to determine whether maximum isometric voluntary grip and finger flexion strength is a useful sensitive outcome measure in children and adult patients with SMA. (Source: Brain and Development)
Source: Brain and Development - February 7, 2024 Category: Neurology Authors: Constanze Weber, Anne M üller, Maren Freigang, Maja von der Hagen, René Günther Tags: Original Article Source Type: research
Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort
CONCLUSIONS: The qRT-PCR method proved to be a rapid, cost-effective, and accurate technique, aligning well with the demands of routine SMA screening, suggesting its general suitability for application in SMA screening programs. This research highlights the importance of improving molecular methodologies and the value of collaborations between government and relevant sectors to overcome rare diseases, particularly through the enhancement of screening initiatives which is the first and most effective strategy to protect the public health.PMID:38309554 | DOI:10.1016/j.cca.2024.117793 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - February 3, 2024 Category: Chemistry Authors: Murat G ülşen Ahmet Cevdet Ceylan Taha Bahsi Hikmet Can Çubukçu Onur Burak Dursun Source Type: research
