一个罕见的Polymicrogyria的病例在一个老年人与独特的多基因突出显示的个体
Andrey Frolov1, Stuart G Atwood1, Miguel A Guzman2
1Department of Surgery - Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.
Cureus
|December 24, 2024
概括
在一个死后病例中,使用先进的遗传和成像技术研究了常见的大脑形的多微症 (PMG). 基因分析揭示了Wnt信号通路基因的罕见变异,这表明这种罕见的神经疾病的多基因原因.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
背景情况:
- 聚微症 (PMG) 是皮层发育 (MCD) 的常见形,其特点是异常的旋转和相关的神经缺陷.
- 由于其多样化的病因学,PMG的分子基础是不太了解的.
研究的目的:
- 通过使用多模式方法,研究老年人PMG的分子机制.
- 为了分类特定类型的PMG,并确定潜在的遗传贡献者.
主要方法:
- 尸体解剖检查结合了解剖分析,磁共振成像 (MRI),遗传病理学和整个外基因组测序 (WES).
- 使用Illumina下一代测序 (NGS) 进行基因查,以识别罕见变异 (MAF ≤0.01).
主要成果:
- 该病例被归类为双面PMG.
- WES发现了83种罕见的有害变异,没有先前相关的基因,但受影响的基因与已知的PMG通路有关,这表明多基因遗传.
- 在Wnt信号通路基因 (ADGRA2,PCDHA1,PCDHA12,PTK7,TPGS1,USP4) 中发现了罕见的变异,ADGRA2被突出显示为潜在的候选基因.
结论:
- 这项研究表明,在这种情况下,PMG的多基因病因,Wnt信号通路的显著参与.
- ADGRA2成为PMG的有希望的候选基因,特别是双额头形式,需要进一步调查.
相关概念视频
01:33Pleiotropy
37.6K
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,...
37.6K
02:07Oogenesis
63.1K
In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
63.1K
02:30Genomic Imprinting and Inheritance
32.7K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
32.7K
01:11Genetic Lingo
98.3K
Overview
98.3K