Ryanodine receptor type 1-related myopathies (RYR1 -RM) are the most common class of congenital myopathies. Historically, RYR1 -RM classification and diagnosis have been guided by histopathologic findings on muscle biopsy.

该论文在离子通道领域有两方面全新发现：（1）与一般认为离子通道的6次跨膜螺旋不同，发现ryanodinereceptor (RyR)/钙释放通道多一条跨膜螺旋，为7次跨膜螺旋，研究组将该螺旋命名为S0；（2）S0螺旋为RyR/钙释放通道门控的关键部件：只有在S0螺旋与其余6个螺旋发生结构耦联，离子通道才能被激动剂（Ca2+/ATP）激活而完全开放；如果S0螺旋与其余6个螺旋解耦联，离子通道只能被激动剂（Ca2+/ATP）激活到前开放（Primed/Pre-open）状态。 该研究解决 …

2024年7月12日 · Purpose of review: RYR1-related myopathy (RYR1-RM) is a group of myopathies caused by mutations in the RYR1 gene, which encodes the ryanodine receptor 1 (RYR1). This review discusses recent advances in the clinical features, pathology, pathogenesis, and therapeutics of RYR1-RM.

RYR1-RM comprise the most common form of congenital myopathy, with a pediatric incidence of > 1:90,000 in the United States [21–23]. Common RYR1-RM clinical manifestations include proximal/axial muscle weakness, delayed motor milestones, impaired mobility, pain, and …

The RYR1 gene (OMIM ∗180901) encodes the skeletal muscle ryanodine receptor (RyR1), which is the Ca 2+ release channel of the sarcoplasmic reticulum (SR). RyR1 and the voltage-dependent L-type calcium channel Cav1.1 are the two principal channels involved in excitation-contraction coupling in skeletal muscle and are mechanically coupled.

This broad range of RYR1-related disorders often presents to the general paediatric and adult neurologist. Its recognition is essential for genetic counselling and improving patients' safety during anaesthesia. Future research should focus on in …

RyR1-related myopathies are a family of genetic neuromuscular diseases due to mutations in the RYR1 gene. No treatment exists for any of these myopathies today, which could change in the coming years with the growing number of studies dedicated to the pre-clinical assessment of various approaches, f …

研究发现，Ca 2+诱导RyR1构象的最大变化之一是周边区域的“聚集”运动，在Ca 2+诱导下，“钳制” 区和“把手” 区外缘产生约5 Å的向下旋转运动，引起中心区产生旋转并导致S4-S5连接螺旋、VSC以及CTD的变化，u -模体发生位移，进一步带动S6孔道螺旋旋转，从而 ...

2024年11月18日 · RYR1 -related diseases affect skeletal muscle and are caused by changes (variants) in the RYR1 gene 1. RYR1 variants are the most common cause of muscle weakness present from birth (congenital myopathy).

Ryanodine receptors (RyRs) are the largest ion channels presently known. They are very large (2.2 MDa) Ca channels that play a key role in excitation-contraction (EC) coupling [1, 2, 3, 4, 5]. RyRs are present in all animals [6, 7]. Three RyR isoforms have been identified in mammals: RyR1, RyR2 and RyR3.