相关实验视频
Updated: Jun 2, 2025

10:49
Measuring RAN Peptide Toxicity in C. elegans
Published on: April 30, 2020
6.6K
在马来西亚患有肌缩侧硬化症 (ALS) 的患者中,ATXN2多重胺中间体重复长度扩张
Suzanna Edgar1,2, Nurul Angelyn Zulhairy-Liong1,2, Melina Ellis3
1Neurology Unit, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, 50603, Malaysia.
Neurogenetics
|January 13, 2025
概括
在ATXN2基因中介CAG重复扩张与肌缩性侧面硬化症 (ALS) 风险有关. 这项研究证实了它们在马来西亚和东南亚人口中的相关性,影响了临床遗传测试.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 分子生物学分子生物学
背景情况:
- 在ATXN2基因中介CAG重复扩张与欧洲和亚洲人群的肌缩侧面硬化症 (ALS) 风险有关.
- ATXN2基因在神经退行性疾病中起作用.
研究的目的:
- 调查马来西亚多民族ALS患者队列中ATXN2CAG重复扩散的流行情况.
- 确定这些扩张在东南亚人口中的临床意义.
主要方法:
- 对148名ALS患者和100名对照人进行ATXN2 CAG重复扩张的查.
- 对不同族群 (中国人,马来人,印度人) 的重复长度的分析.
主要成果:
- 四名零星ALS患者 (2.8%) 呈现中间ATXN2 CAG重复大小 (29-33).
- 一名患者患有罕见的同卵性32重复扩张和SPAST变异;所有四人都有肢体发病的ALS.
- 四名阳性患者中有三名是印度血统,尽管他们是最小的族群.
结论:
- 在马来西亚和东南亚的人群中,ATXN2中间重复扩张是ALS的相关遗传因素.
- 这些发现支持将ATXN2重复分析纳入该地区的ALS临床遗传测试.
- 该研究强调了潜在的种族特异性对ALS风险的贡献.
更多相关视频
相关概念视频
Alternative RNA Splicing
20.9K
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...
20.9K
Translation
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
Exon Recombination
3.5K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
3.5K
Non-LTR Retrotransposons
11.4K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.4K

