相关实验视频

Updated: May 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

在LYRM7-关联线粒体复合体III缺乏症中,同胞性开始-损失变体的新呈现和可变的表型谱

Noel Deep Luke¹, Aditya Vijayakrishnan Nair², Ajith Sivadasan²

¹Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.

American journal of medical genetics. Part A

|May 3, 2025

概括

LYRM7基因变异导致线粒体复合体III缺乏,呈现出各种神经症状和脑成像发现. 这项研究突出了一个新的成人发病的视神经病变现型,扩大了已知的疾病谱.

科学领域:

生物化学生物化学
遗传学是一个遗传学.
神经学神经学

背景情况:

与LYRM7相关的线粒体复合体III缺乏症通常呈现为童年发病的白细胞脑病变.
以前的描述集中在具有特定神经成像特征的儿科病例上.

研究的目的:

描述具有特定同卵性致病性LYRM7变体的个体的异质临床和神经成像资料.
识别新型表型并扩大对LYRM7相关线粒体疾病的理解.

主要方法:

对六名患者 (儿科,青少年和成人) 进行了回顾性病例系列分析,这些人患有致病性开始损失LYRM7变体 (c.2T>C,p.Met1?). ) 的情况.
在多次诊所访问中分析神经学表现和脑成像发现.

主要成果:

视力丧失和乳酸性酸是常见的,在除了一个人以外的所有个体中都观察到.
发现了一种新型的成人发病单独双边同时视神经病变的表型.
在三个人的脑磁共振成像中,特征性的化性白细胞大脑病变存在.

结论:

与LYRM7相关的线粒体复合体III缺乏症表现出异质的临床和神经成像谱,包括成人开始的视觉神经病变.
考虑LYRM7缺陷在炎症/脱脱线性疾病的差异诊断中,特别是在发育延迟,反复发作或特定的成像发现的情况下.
这种疾病表现出显著的家族内和家族间的变异性.

关键词:

在LYRM7基因中,脑白细胞病变 (leukoencephalopathy) 是一种脑白细胞病变.线粒体复合体III缺乏症线粒体复合体III缺乏症视力缩的光学缩开始-损失变体的变体.

更多相关视频

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry

Published on: November 23, 2011

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

相关概念视频

Lysosomal Hydrolases

Lysosomal Hydrolases

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,...