杜氏肌肉发育不良症治疗的治疗选择不断发展
Eleonora S D'Ambrosio1, Jerry R Mendell2
1Center for Gene Therapy, Department of Pediatrics, Abigail Wexner Research Institute, Nationwide Children's Hospital, Ohio State University, Columbus, OH, 43205, USA. eleonora.d'ambrosio@nationwidechildrens.org.
概括
杜恩肌肉发育不良 (DMD) 治疗正在推进,包括基因疗法,如外跳转,基因替代和CRISPR基因编辑. 这些创新方法为管理这种严重的儿童肌肉消耗疾病提供了新的希望.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 生物技术是生物技术.
背景情况:
- 杜氏肌肉发育不良 (DMD) 是一种严重的儿童遗传疾病,由DMD基因突变引起,导致肌肉发育不良的缺陷.
- 临床表现包括渐进的肌肉退化,心肌病,呼吸衰竭和过早死亡.
- 皮质类固醇在历史上已经控制了症状,但新的遗传疗法代表了范式的转变.
结论:
- 最近的DMD治疗进展,特别是遗传策略,具有显著的潜力,可以改善患者的治疗结果.
- 克服挑战和从过去的经验中学习对于推进DMD治疗至关重要.
- 创新的基因疗法为减轻这种破坏性神经肌肉疾病的负担提供了希望.
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
Skeletal Muscle Relaxants: Therapeutic Uses
511
Skeletal muscle relaxants are used to relax muscle tone and alleviate painful muscle contractions. However, the choice of skeletal muscle relaxants depends on the duration of the surgical procedure in order to minimize potential side effects. Skeletal muscle relaxants like neuromuscular blocking agents [NMBAs] are commonly employed as adjuvants alongside general anesthetics in clinical settings. NMBAs are also used to maintain controlled ventilation during surgery of the larynx or pharynx...
511
Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin
703
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...
703
Myasthenia Gravis: Overview and Treatment
1.6K
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...
1.6K
Cardiomyopathy II: Dilated Cardiomyopathy
11
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
11
Cardiomyopathy V: Interprofessional Care
14
Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
14


