线粒体tRNAGlu变体与听力损失之间的关联:一个案例对照研究
Xuejiao Yu1, Sheng Li2, Qinxian Guo3
1Department of Clinical Laboratory, Quzhou People's Hospital, the Quzhou Affiliated Hospital of Wenzhou Medical University, Quzhou, Zhejiang Province, 324000, People's Republic of China.
Pharmacogenomics and personalized medicine
|April 2, 2024
概括
线粒体tRNAGlu变体与儿童的非综合征性听力损失 (NSHL) 有关. 这些变体损害了线粒体功能,突出显示了它们作为NSHL风险因素的作用.
科学领域:
- 遗传学 遗传学 是一个
- 线粒体生物学 线粒体生物学
- 听力学 听力学是指听力学.
背景情况:
- 非综合征性听力损失 (NSHL) 是一种常见的先天性疾病.
- 线粒体DNA (mtDNA) 突变与各种人类疾病有关,包括听力障碍.
- 线粒体转移RNA基因中的特定变异,如mt-tRNAGlu,需要进一步调查它们在NSHL中的作用.
研究的目的:
- 在患有NSHL的儿科患者中调查mt-tRNAGlu变异的频率.
- 为了识别与NSHL相关的潜在的致病性mtDNA变异.
- 评估已识别的变异对线粒体功能的影响.
主要方法:
- 桑格测序用于对180名NSHL患者和100名对照患者的mt-tRNAGlu变异进行查.
- 遗传学保存和单基组分析被用来评估已识别的变异的病原性.
- 线粒体功能测定 (mtDNA含量,ATP,ROS) 在患者衍生细胞上进行.
主要成果:
- 四种潜在的致病变体 (m.T14709C,m.A14683G,m.A14692G,m.A14693G) 仅在NSHL患者中被发现.
- 患有m.A14692G和m.G7444A变异的患者表现出显著减少的mtDNA复制数和ATP生产,以及增加的ROS水平.
- 在一个携带m.A14692G变异的儿童中,发现了NSHL的家族史.
结论:
- mt-tRNAGlu变体是儿科非综合征性听力损失的重要危险因素.
- 已识别的变体有助于线粒体功能障碍,为NSHL提供了分子基础.
- 这些发现强调了在诊断NSHL时查线粒体变异的重要性.
相关概念视频
01:31Translation
141.9K
Lesson: Translation
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...
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...
141.9K
01:11Genome-wide Association Studies-GWAS
13.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.4K
02:59Animal Mitochondrial Genetics
7.6K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
7.6K
01:43Incomplete Dominance
22.5K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.5K