Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
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DOI：
10.1186/s13395-020-00243-4
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发表时间：
2020-11-16
期刊：
影响因子：
4.9
通讯作者：
Dirksen RT
中科院分区：
文献类型：
--
作者：
Lawal TA;Todd JJ;Witherspoon JW;Bönnemann CG;Dowling JJ;Hamilton SL;Meilleur KG;Dirksen RT
RYR 1基因编码肌浆网钙释放通道或骨骼肌的1型兰尼碱受体（RyR 1），于1988年测序，并于1991年首次鉴定出RYR 1变异损害钙稳态并增加对恶性高热的易感性。从那时起，RYR 1相关肌病（RYR 1-RM）已被描述为罕见的，组织病理学和临床异质性，缓慢进行性神经肌肉疾病。RYR 1变体可导致RyR 1介导的钙释放功能障碍、恶性高热易感性、氧化应激升高、有害的翻译后修饰和RyR 1表达降低。RYR 1-RM受影响的个体可表现为运动里程碑延迟、挛缩、脊柱侧凸、眼肌麻痹和呼吸功能不全。历史上，RYR 1-RM受影响的个体是基于在肌肉活检中观察到的形态学特征诊断的，包括中央核心、核心和杆、中央核、纤维类型不比例和多微核心。然而，这些组织病理学特征并不总是特异于RYR 1-RM，并且经常随时间而变化。由于其他表型与RYR 1变异相关（包括King-Denborough综合征、运动诱导的横纹肌溶解症、致死性多发性翼状胬肉综合征、成人发作的远端肌病、伴或不伴肌痛的非典型周期性麻痹、轻度小牛为主的肌病和尘芯病），诊断类别之间的重叠越来越多。随着沿着RYR 1疾病谱的新临床亚型的不断出现和成人发病表型的报告，已经报告了细微差别的命名（RYR 1- [相关，相关先天性，先天性]肌病）。在这篇叙述性综述中，我们提供了RYR 1研究的历史亮点，主要诊断疾病亚型的帐户，并提出RYR 1相关疾病（RYR 1-RD）作为一个统一的命名来描述这种复杂和不断发展的疾病谱。
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyperthermia were first identified in 1991. Since then, RYR1-related myopathies (RYR1-RM) have been described as rare, histopathologically and clinically heterogeneous, and slowly progressive neuromuscular disorders. RYR1 variants can lead to dysfunctional RyR1-mediated calcium release, malignant hyperthermia susceptibility, elevated oxidative stress, deleterious post-translational modifications, and decreased RyR1 expression. RYR1-RM-affected individuals can present with delayed motor milestones, contractures, scoliosis, ophthalmoplegia, and respiratory insufficiency. Historically, RYR1-RM-affected individuals were diagnosed based on morphologic features observed in muscle biopsies including central cores, cores and rods, central nuclei, fiber type disproportion, and multi-minicores. However, these histopathologic features are not always specific to RYR1-RM and often change over time. As additional phenotypes were associated with RYR1 variations (including King-Denborough syndrome, exercise-induced rhabdomyolysis, lethal multiple pterygium syndrome, adult-onset distal myopathy, atypical periodic paralysis with or without myalgia, mild calf-predominant myopathy, and dusty core disease) the overlap among diagnostic categories is ever increasing. With the continuing emergence of new clinical subtypes along the RYR1 disease spectrum and reports of adult-onset phenotypes, nuanced nomenclatures have been reported (RYR1- [related, related congenital, congenital] myopathies). In this narrative review, we provide historical highlights of RYR1 research, accounts of the main diagnostic disease subtypes and propose RYR1-related disorders (RYR1-RD) as a unified nomenclature to describe this complex and evolving disease spectrum.
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