全球纵向菌株在前症状患者与突变的 transthyretin 氨基粉症
Grazia Canciello1, Stefano Tozza2, Gaetano Todde1
1Department of Advanced Biomedical Sciences, University Federico II of Naples, Naples, Italy.
Orphanet journal of rare diseases
|December 5, 2024
概括
早期检测遗传性转基因氨基粉症 (ATTRv) 是至关重要的. 这项研究发现,全球纵向应变 (GLS) 和定量感官测试 (QST) 表明,在症状前的TTR突变载体中,早期心脏和神经参与.
科学领域:
- 心脏病学 心脏病学
- 神经学 神经学
- 遗传学 遗传学 是一个
背景情况:
- 遗传性转基因氨基粉症 (ATTRv) 是一种罕见的,致命的,自体主导性疾病.
- 早期检测对于及时干预和改善患者结果至关重要.
- 确定前症状个体心脏和神经参与的早期指标是必要的.
研究的目的:
- 为了确定前症状TTR突变载体中心脏参与的早期标志物.
- 调查早期心脏和神经指标之间的相关性.
- 在疾病发作之前评估TTR基因突变的个体的心脏和神经功能.
主要方法:
- 研究了16名TTR突变携带者 (平均年龄51±9岁),没有左心室缩.
- 使用心声学和全球纵向应变 (GLS) 评估心脏功能.
- 通过定量感官测试 (QST) 和佩鲁吉尼分数来评估神经功能.
主要成果:
- 在9名受试者中观察到异常的GLS,独立于年龄或其他心脏标志物.
- 定量感官测试 (QST) 在大多数参与者身上发现了异常.
- 在更糟糕的感冒疼痛门和更糟糕的GLS (r=0.786,p<0.001) 之间发现了显著的相关性.
结论:
- 全球纵向应变 (GLS) 和定量感官测试 (QST) 表明ATTRv.早期心脏和小神经纤维参与.
- 这些发现表明,心脏功能障碍与早期的小神经纤维损伤相匹配.
- 这些标记物的早期检测可以促进对前症状TTR突变载体的及时干预.
更多相关视频
08:59Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
Published on: July 16, 2021
2.6K
16:02Demonstration of the Sequence Alignment to Predict Across Species Susceptibility Tool for Rapid Assessment of Protein Conservation
Published on: February 10, 2023
2.6K
相关概念视频
01:31Translation
14.5K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
Translation Produces the Building Blocks of Life
Proteins are...
14.5K
02:18Alternative RNA Splicing
21.0K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.0K