杜申肌肉发育不良:病原和有前途的治疗方法
Mengyuan Chang1, Yong Cai2, Zihui Gao1
1Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China.
Journal of neurology
|May 31, 2023
概括
杜恩肌肉发育不良 (DMD) 源于双素缺乏,导致逐渐肌肉衰竭和过早死亡. 这篇评论详细介绍了DMD的细节.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 细胞生物学 细胞生物学
背景情况:
- 杜申肌肉发育不良 (DMD) 是一种严重的遗传疾病,其特征是肌肉逐渐恶化和流动性丧失.
- 呼吸道和心肌衰竭是DMD患者过早死亡的主要原因.
- 这种疾病的发病与双素基因的突变有关,导致双素缺乏.
研究的目的:
- 阐明杜申尼肌肉发育不良症背后的分子机制.
- 详细介绍因缺乏双素而导致的细胞损伤和功能障碍.
- 总结一下最近的DMD治疗进展.
主要方法:
- 本综述综合了关于DMD病变的当前知识.
- 它检查了肌肉细胞损伤的分子机制,包括氧化应激,调节失调和沙科莱玛不稳定性.
- 该审查还涵盖神经肌肉结合障碍,卫星细胞功能障碍和微环境恶化.
主要成果:
- 双素缺乏导致肌细胞功能障碍,易受伤害,以及随后的病理变化.
- 细胞损伤包括氧化应激,平衡受损,和 sarcolemma 的不稳定性.
- 异常的细胞功能和受损的肌肉再生有助于疾病进展和多器官功能障碍.
结论:
- 双素缺乏是DMD的核心原因,导致广泛的细胞和器官功能障碍.
- 了解这些分子和细胞机制对于开发有效的DMD治疗至关重要.
- 最近的治疗进展为改善这种衰弱疾病的管理提供了希望.
相关概念视频
Satellite Stem Cells and Muscular Dystrophy
2.0K
Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
2.0K
Disorders of the Skeletal Muscle
1.0K
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
1.0K
Microorganisms in Medicine and Therapeutics
74
Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
74
Myasthenia Gravis: Overview and Treatment
1.7K
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
1.7K
Parkinson's Disease: Overview
614
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
614
Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin
713
Directly acting muscle relaxants like dantrolene and botulinum toxin (BoNT) have distinct mechanisms and applications. Dantrolene, a hydantoin derivative, acts on the ryanodine receptor (RYR1) in skeletal muscle cells. RYR1 are calcium channels present at the sarcoplasmic reticulum membrane. In response to excitation, they release calcium ions from the sarcoplasmic reticulum to the cytosol. Calcium promotes actin-myosin-mediated contraction of muscles.
The binding of dantrolene to the RYR1...
The binding of dantrolene to the RYR1...
713


