MMD is commonly found worldwide, but it is more prevalent in East Asian countries and that 10–15% of patients with MMD have a family history of the disease ( Kuriyama et al., 2008 Kainth et al., 2013 Ahn et al., 2014). Moyamoya disease (MMD) is a rare chronic cerebrovascular disorder characterized by progressive stenosis or occlusion of the distal and intracranial internal carotid arteries (ICAs) and their proximal branches, accompanied by the development of leptomeningeal collaterals, called moyamoya vessels, at the base of the brain ( Suzuki and Takaku, 1969 Kuroda and Houkin, 2008). This transcriptomic study highlighted that ECM and mitochondrial function are the central molecular mechanisms underlying MMD, and revealed sex differences in the gene expression in the intracranial arteries, thereby providing new insights into the pathogenesis of MMD. These sex-specific DEGs, such as aquaporin-4 (AQP4), superoxide dismutase 3 (SOD3), and nuclear receptor subfamily 4 group A member 1 (NR4A1), may contribute to sex differences in MMD. Sex-specific DEGs were observed on all chromosomes, of which 95.49 and 96.59% were autosomal genes in men and women, respectively. About 95.6% of sex-specific DEGs were protein-coding genes and 3% of the genes belonged to long non-coding RNAs (lncRNA). We identified 133 and 439 sex-specific DEGs for men and women in MMD, respectively. Moreover, we found that a separate sex analysis uncovers more DEGs ( n = 1.022) compared to an combined sex analysis in MMD. Compared with atherosclerosis-associated intracranial artery stenosis/occlusion (AS-ICASO) controls, upregulated genes were mainly involved in extracellular matrix (ECM) organization, whereas downregulated genes were primarily associated with mitochondrial function and oxidative phosphorylation in MMD. We identified 556 differentially expressed genes (DEGs) for MMD, including 449 and 107 significantly upregulated or downregulated genes. Here, we revealed the gene expression profile of the intracranial arteries in MMD via the RNA-sequencing (RNA-seq). Moyamoya disease (MMD) is a rare, progressively steno-occlusive cerebrovascular disorder of unknown etiology. 2Brain Research Center, Zhongnan Hospital, Wuhan University, Wuhan, China.1Department of Neurosurgery, Zhongnan Hospital, Wuhan University, Wuhan, China.Shuangxiang Xu 1,2 † Wei Wei 1,2 † Feiyang Zhang 1,2 † Tongyu Chen 1,2 Lixin Dong 1,2 Jichun Shi 1,2 Xiaolin Wu 1,2 Tingbao Zhang 1,2 Zhengwei Li 1,2 Jianjian Zhang 1,2 * Xiang Li 1,2 * Jincao Chen 1,2 *
0 kommentar(er)
