Dataset Information

Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases.

ABSTRACT: Neuromuscular diseases (NMDs) belong to a class of functional impairments that cause dysfunctions of the motor neuron-muscle functional axis components. Inherited monogenic neuromuscular disorders encompass both muscular dystrophies and motor neuron diseases. Understanding of their causative genetic defects and pathological genetic mechanisms has led to the unprecedented clinical translation of genetic therapies. Challenged by a broad range of gene defect types, researchers have developed different approaches to tackle mutations by hijacking the cellular gene expression machinery to minimize the mutational damage and produce the functional target proteins. Such manipulations may be directed to any point of the gene expression axis, such as classical gene augmentation, modulating premature termination codon ribosomal bypass, splicing modification of pre-mRNA, etc. With the soar of the CRISPR-based gene editing systems, researchers now gravitate toward genome surgery in tackling NMDs by directly correcting the mutational defects at the genome level and expanding the scope of targetable NMDs. In this article, we will review the current development of gene therapy and focus on NMDs that are available in published reports, including Duchenne Muscular Dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked myotubular myopathy (XLMTM), Spinal Muscular Atrophy (SMA), and Limb-girdle muscular dystrophy Type 2C (LGMD2C).

SUBMITTER: Chiu W

PROVIDER: S-EPMC7767109 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases.

Chiu Wei W Hsun Ya-Hsin YH Chang Kao-Jung KJ Yarmishyn Aliaksandr A AA Hsiao Yu-Jer YJ Chien Yueh Y Chien Chian-Shiu CS Ma Chun C Yang Yi-Ping YP Tsai Ping-Hsing PH Chiou Shih-Hwa SH Lin Ting-Yi TY Cheng Hao-Min HM

International journal of molecular sciences 20201216 24

Neuromuscular diseases (NMDs) belong to a class of functional impairments that cause dysfunctions of the motor neuron-muscle functional axis components. Inherited monogenic neuromuscular disorders encompass both muscular dystrophies and motor neuron diseases. Understanding of their causative genetic defects and pathological genetic mechanisms has led to the unprecedented clinical translation of genetic therapies. Challenged by a broad range of gene defect types, researchers have developed differ ...[more]

PMID: 33339321

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Project description:Background and objectiveRespiratory care is often embedded as a component of the overlapping management strategies in many patients with neuromuscular disease (NMD). Implementation of respiratory care strategies requires a sensitivity to the nature of the disease, the vulnerability during rapid eye movement (REM) sleep and complicating comorbidities specific to each patient. Care must adjust to progression of the disease as well as the comfort and preferences of the patient. Clinical presentations are usually heterogenous based on the specific NMD and overall course of the disease making diagnosis and respiratory care challenging. The aim of this review was to review the state-of-the-art evidence-based clinical practices and updates in the management of respiratory complications in patients with NMDs.MethodsWe conducted a search on the PubMed and Medline databases using these keywords: secretions, neuromuscular disease, neuromuscular disorders, non-invasive ventilator, neuromuscular respiratory weakness, respiratory failure. The specified timeframe began from 1980 to 2024.Key content and findingsTimely use of non-invasive ventilation and overall respiratory care is most important as emerging evidence shows some benefits with improved mortality in this group of patients. In some settings, comorbid complications that dictate need for airway management and oral diversion may have a more profound impact on mortality than the effectiveness of ventilatory support that are chosen. A multidisciplinary team approach to care has been shown to improve the quality of life and survival in these patients in centers of excellence. Patients should have the ability to access services provided by neurology, pulmonology, speech pathology, sleep medicine, cardiology and respiratory therapy services.ConclusionsThe cornerstone for management of respiratory failure and sleep disordered breathing in NMD is non-invasive ventilation (NIV). Initiation of this support and other respiratory cares need to be timely, and patients may have very subtle symptoms during the early stages of the disease which makes it challenging in recognizing the onset of respiratory muscle stress and fatigue. Close attention to these symptoms as well as respiratory and radiologic parameters is essential for appropriate incorporation of these cares.

Dataset Information

Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases.

Publications

Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases.

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