脊髓病变:巴德特-比德尔综合征 脊髓病变:巴德特-比德尔综合征
Ahmet Hondur1, Stephen Tsang2, Alicia R P Aycinena3
1Department of Ophthalmology, Columbia University, New York, NY, USA.
Advances in experimental medicine and biology
|July 30, 2025
概括
巴德特-比德尔综合征 (BBS) 是一种罕见的遗传疾病,每125,000人中约有1人患上这种疾病. 这种自体相衰退性疾病在理解其复杂的遗传基础和临床表现方面提出了重大挑战.
科学领域:
- 遗传学 遗传学 是一个
- 罕见疾病 罕见疾病
- 临床医学 临床医学
背景情况:
- 巴德特-比德尔综合征 (BBS) 是一种自体逆性遗传疾病.
- 在全球范围内,BBS影响了大约125,000人中的1人.
- 了解BBS对于遗传咨询和患者管理至关重要.
研究的目的:
- 提供巴德特-比德尔综合征的简要概述.
- 突出BBS的遗传基础和流行情况.
- 强调早期诊断和研究的重要性.
主要方法:
- 关于BBS的遗传和临床研究的文献综述.
- 对BBS流行情况的流行病学数据的分析.
- 综合关于BBS病理生理学的当前知识.
主要成果:
- BBS的特点是显著的遗传异质性.
- 在受影响的个体中,BBS的临床特征是高度可变的.
- 患病率数据强调BBS是一种罕见但重要的遗传疾病.
结论:
- 巴德特-比德尔综合征是一种复杂的自体相衰退性疾病.
- 需要进一步的研究来阐明BBS的发病原因,并开发有针对性的疗法.
- 准确的流行数据对于资源分配和公共卫生战略至关重要.
相关概念视频
Microtubules in Signaling
1.8K
The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
1.8K
Pedigree Analysis
85.1K
Overview
85.1K
Mechanism of Ciliary Motion
3.9K
The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
3.9K
Cystic Fibrosis: Pathogenesis
358
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
358
Translation
143.2K
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...
143.2K
Lysosomal Hydrolases
3.9K
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,...
3.9K


