TRPM3相关疾病的表型谱
Laura Jolitz1,2,3,4, Ingo Helbig5, Mark P Fitzgerald5,6,7
1Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Annals of neurology
|January 3, 2025
概括
与美拉斯相关的短暂受体潜在3型基因 (TRPM3) 中的单基因变异会导致神经发育障碍,主要是. TRPM3通道阻断剂普里米有效改善了受影响儿童的发作和发育.
科学领域:
- 神经遗传学 神经遗传学
- 发病学 (Epileptology) 是一个专业的学科.
- 发育神经科学的发展神经科学.
背景情况:
- 与拉斯相关的短暂受体潜在3型基因 (TRPM3) 中的单基因变异与神经发育障碍有关.
- 关于TRPM3相关疾病的全临床谱和治疗疗效的信息有限.
研究的目的:
- 描述TRPM3变体的临床表现,重点关注.
- 评估各种治疗方法的有效性,特别是在控制和发育结果方面.
主要方法:
- 从43个具有致病性TRPM3变异的个体的表型和基因型的回顾性分析.
- 数据来源于GeneMatcher,合作和系统的文献搜索.
主要成果:
- 队列 (平均年龄10岁,60%为女性) 经常出现发育迟缓/智力障碍 (93%),低血压 (77%),眼部 (70%) 和肌肉骨异常 (65%).
- ,特别是发育性和性脑病变 (DEE/DEE-SWAS),影响了72%的患者. p.Val1002Met变种与更高的发育延迟和率有关.
- 普里米在所有接受治疗的患者中显示出显著的疗效,改善了发作频率,增强了运动,言语和学习能力.
结论:
- 发育迟缓/智力障碍和是TRPM3变体的标志性特征.
- 鉴于对发育的影响,对神经系统异常的早期查和及时干预至关重要.
- 作为TRPM3通道阻断剂的primidone显示出有前途,应考虑用于管理TRPM3功能增益变体.
更多相关视频
08:27Expression and Purification of the Human Lipid-sensitive Cation Channel TRPC3 for Structural Determination by Single-particle Cryo-electron Microscopy
Published on: January 7, 2019
9.4K
08:35A Simple and Inexpensive Method for Determining Cold Sensitivity and Adaptation in Mice
Published on: March 17, 2015
14.7K
相关概念视频
01:33Pleiotropy
39.7K
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,...
39.7K
01:27Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
427
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
427
01:35Pedigree Analysis
83.9K
Overview
83.9K