罕见的c.302C>T TTR 变体与西氨基粉症相关
Dovilė Žebrauskienė1, Eglė Sadauskienė2, Rūta Masiulienė3
1Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania.
Medicina (Kaunas, Lithuania)
|February 24, 2024
概括
这种罕见的TTR c.302C>T变体导致遗传性转基因氨基粉症 (ATTRv). 双胞胎携带者会出现更早的发病和神经症状,而异胞胎携带者会发展出更明显的心脏粉症.
科学领域:
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
- 神经学 神经学
背景情况:
- 遗传性转基因氨基粉症 (ATTRv) 是一种罕见的遗传性疾病.
- 已知TTR基因中有140多种致病变体.
- 这种TTR c.302C>T变种很少见,主要与心脏ATTRv.相关.
研究的目的:
- 分析具有TTR c.302C>T变异的个体的临床特征.
- 为了研究同卵性和异卵性载体的临床表现.
- 为了比较不同基因型之间的疾病表现.
主要方法:
- 在维尔纽斯大学医院对ATTRv患者的回顾性分析.
- 通过排除单克隆蛋白,组织活检或骨透镜以及基因检测来确认ATTRv.
- 临床数据收集包括发病年龄,症状,心电图,实验室测试和心声回声.
主要成果:
- 在一个同卵性和三个异卵性个体中发现了TTR c.302C>T变体.
- 症状发病时间在44岁至74岁之间,最早发生在同卵同卵的患者中.
- 双胞胎携带者呈现严重的多神经病变和四周病变;异胞胎表现出显著的粉样心肌病.
- 心脏生物标志物升高和左心室缩是常见的发现.
- 该变种在表型负的亲属中被发现,表明透率降低或晚发.
结论:
- 这种TTR c.302C>T变异与ATTRv有关,特别是心肌病.
- 这种变异的同卵性状态,以前没有报告,导致早期的疾病发作和神经系统的参与.
- 异卵性载体主要表现为粉样心肌病.
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