结构性病变和转录学专业化在威尔逊病中形成梯度扰动.
Sheng Hu1,2,3, Chuanfu Li4, Yanming Wang1
1Department of Electronic Engineering and Information Science, Medical Imaging Center, University of Science and Technology of China, Hefei, Anhui, 230026, China.
Brain communications
|October 7, 2024
概括
威尔逊病 (WD) 由于铜积累导致大脑功能障碍. 这项研究将大脑结构变化,功能梯度和基因表达与WD联系起来,揭示了神经症状的洞察力.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 医疗成像医学成像
背景情况:
- 威尔逊病 (WD) 涉及大脑中过度的铜沉积,导致功能失调.
- WD的遗传基础与肝脏中异常的ATP7B基因表达有关.
- 造成脑部疾病的功能和分子机制在很大程度上仍未被探索.
研究的目的:
- 调查与WD中的结构性病变相关的大脑功能梯度扰动.
- 探索与WD患者功能梯度改变相关的转录学专业化.
- 了解WD中神经和精神病学现象的神经生物学基础.
主要方法:
- 从105名WD患者和93名健康对照中获得结构和功能MRI扫描.
- 扩散映射嵌入模型用于导出功能连接体梯度并分析结构-功能脱.
- 神经合成,临床数据和全脑基因表达数据分析认知功能,表型和转录学专业化.
主要成果:
- 与对照组相比,WD患者在初级到跨模态功能梯度中显示出全球地形变化.
- 梯度变化与运动处理,认知,神经症状和年龄相关,揭示结构功能脱.
- 确定了与离子恒温和神经发育相关的WD的转录组专业化,并与ATP7B在皮下功能中的作用联系在一起.
结论:
- 研究结果将功能梯度干扰和结构性病变与WD中的基因表达特征联系起来.
- 这项研究为WD的神经生物学机制提供了新的见解,包括ATP7B对皮下功能的影响.
- 在WD中确定的转录专业化与神经/精神疾病有关,这表明共享的机制.
更多相关视频
08:33Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
Published on: March 24, 2019
7.4K
11:04Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides
Published on: September 7, 2019
9.1K
相关概念视频
Translation
141.6K
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...
141.6K
Alternative 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
Genome-wide Association Studies-GWAS
13.2K
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...
13.2K
Pleiotropy
40.3K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.3K
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
The Nucleolus
8.7K
The nucleolus is the most prominent substructure of the nucleus. When it was first discovered, it was considered to be an isolated organelle that forms fibrils and granules. In 1931, the relationship between the nucleolus and chromosomes was first described by Heitz. He observed that the appearance and size of nucleolus varies depending on the stage of the cell cycle. He also noticed constricted regions on different chromosomes clustered together at definite cell cycle stages. These regions,...
8.7K
