Aarhus Mads, Helland Christian A, Lund-Johansen Morten, Wester Knut, Knappskog Per M
Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Cerebrospinal Fluid Res. 2010 Feb 26;7:6. doi: 10.1186/1743-8454-7-6.
Intracranial arachnoid cysts (AC) are membranous sacs filled with CSF-like fluid that are commonly found in the temporal fossa. The majority of ACs are congenital. Typical symptoms are headache, dizziness, and dyscognition. Little is known about genes that contribute to the formation of the cyst membranes.
In order to identify differences in gene expression between normal arachnoid membrane (AM) and cyst membrane, we have performed a high-resolution mRNA microarray analysis. In addition we have screened DNA from AC samples for chromosomal duplications or deletions using DNA microarray-based copy number variation analysis.
The transcriptome consisting of 33096 gene probes showed a near-complete similarity in expression between AC and AM samples. Only nine genes differed in expression between the two tissues: ASGR1, DPEP2, SOX9, SHROOM3, A2BP1, ATP10D, TRIML1, NMU were down regulated, whereas BEND5 was up regulated in the AC samples. Three of the AC samples had unreported human DNA copy number variations, all DNA gains.
Extending results of previous anatomical studies, the present study has identified a small subset of differentially expressed genes and DNA alterations in arachnoid cysts compared to normal arachnoid membrane.
颅内蛛网膜囊肿（AC）是充满脑脊液样液体的膜性囊，常见于颞窝。大多数AC是先天性的。典型症状为头痛、头晕和认知障碍。关于促成囊肿膜形成的基因知之甚少。
为了鉴定正常蛛网膜（AM）和囊肿膜之间的基因表达差异，我们进行了高分辨率mRNA微阵列分析。此外，我们使用基于DNA微阵列的拷贝数变异分析，对AC样本的DNA进行染色体重复或缺失筛查。
由33096个基因探针组成的转录组显示，AC和AM样本之间的表达几乎完全相似。两种组织之间只有9个基因表达不同：ASGR1、DPEP2、SOX9、SHROOM3、A2BP1、ATP10D、TRIML1、NMU下调，而BEND5在AC样本中上调。3个AC样本存在未报告的人类DNA拷贝数变异，均为DNA增加。
本研究扩展了先前解剖学研究的结果，确定了与正常蛛网膜相比，蛛网膜囊肿中一小部分差异表达基因和DNA改变。
