与X相关的神经元迁移障碍:基因查的性别差异和洞察力
Juliet Edey1, Payam Soleimani-Nouri1, Amelia Dawson-Kavanagh1
1Faculty of Medicine, Imperial College London, Hammersmith Hospital Campus, London, UK.
概括
与X相关的神经元迁移障碍 (NMDs) 会导致皮质缺陷和神经发育问题. 这篇综述强调了关键的基因,病理生理学,以及对这些家族性疾病进行遗传查的重要性.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 神经元迁移障碍 (NMDs) 的特征是皮质缺陷,导致神经认知障碍,发育迟缓和发作.
- 皮层发育障碍占儿童病例的25%,但其流行病学和原因尚不清楚.
- 与X相关的NMDs,通常是家族性,包括像lisencephaly这样的条件,周周结核结核异样性,和多微.
研究的目的:
- 审查与X相关的神经元迁移障碍 (NMDs),重点关注其遗传基础和病理生理学.
- 要突出涉及X链 NMD 的突出基因,例如DCX,ARX,FLNA,FMR1,L1CAM,SRPX2,DDX3X,NSHDL,CUL4B 和 OFD1.
- 强调识别X相关的NMDs的临床意义,特别是女性中较温和的表型及其生殖影响.
主要方法:
- 关于X相关神经元迁移障碍的文献综述.
- 基因突变及其相关的病理生理机制的分析.
- 目前关于NMDs基因流行率和功能的知识总结.
主要成果:
- 确定了一些关键基因 (DCX,ARX,FLNA等). 涉及到X链接的NMDs.
- 概述了这些遗传突变背后的病理生理学.
- 注意到女性经常表现出较温和的表型,增加了到生殖年龄的存活率和传播潜力.
结论:
- 鉴于它们的家族遗传和女性中较温和表型的潜力,识别X结合的NMD至关重要.
- 了解基因突变和功能对于有效的基因查,预防和治疗至关重要.
- 本综述为科学家和临床医生提供了NMD未来研究的知识基础和方向.
相关概念视频
Sex-linked Disorders
102.4K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.4K
X-linked Traits
55.0K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
55.0K
Pedigree Analysis
84.5K
Overview
84.5K
Human Genetics
612
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
612
X and Y Chromosomes
26.3K
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
26.3K
The Ratio of X Chromosome to Autosomes
8.6K
In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
8.6K


