{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T02:50:14Z","timestamp":1791946214692,"version":"4.3.4"},"reference-count":44,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T00:00:00Z","timestamp":1717977600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    <jats:bold>Introduction:<\/jats:bold>\n                    Moyamoya disease (MMD) is a chronic cerebrovascular disease that can lead to ischemia and hemorrhagic stroke. The relationship between oxidative phosphorylation (OXPHOS) and MMD pathogenesis remains unknown.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods:<\/jats:bold>\n                    The gene expression data of 60 participants were acquired from three Gene Expression Omnibus (GEO) datasets, including 36 and 24 in the MMD and control groups. Differentially expressed genes (DEGs) between MMD patients MMD and control groups were identified. Machine learning was used to select the key OXPHOS-related genes associated with MMD from the intersection of DEGs and OXPHOS-related gene sets. Gene ontology (GO), Kyoto encyclopedia of genes and genomes (KEGG), gene set enrichment analysis (GSEA), Immune infiltration and microenvironments analysis were used to analyze the function of key genes. Machine learning selected four key OXPHOS-related genes associated with MMD:\n                    <jats:italic>CSK<\/jats:italic>\n                    ,\n                    <jats:italic>NARS2<\/jats:italic>\n                    ,\n                    <jats:italic>PTPN6<\/jats:italic>\n                    and\n                    <jats:italic>SMAD2<\/jats:italic>\n                    (\n                    <jats:italic>PTPN6<\/jats:italic>\n                    was upregulated and the other three were downregulated).\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    Functional enrichment analysis showed that these genes were mainly enriched in the Notch signaling pathway, GAP junction, and RNA degradation, which are related to several biological processes, including angiogenesis, proliferation of vascular smooth muscle and endothelial cells, and cytoskeleton regulation. Immune analysis revealed immune infiltration and microenvironment in these MMD samples and their relationships with four key OXPHOS-related genes. APC co-inhibition (\n                    <jats:italic>p<\/jats:italic>\n                    = 0.032), HLA (\n                    <jats:italic>p<\/jats:italic>\n                    = 0.001), MHC I (\n                    <jats:italic>p<\/jats:italic>\n                    = 0.013), T cellco- inhibition (\n                    <jats:italic>p<\/jats:italic>\n                    = 0.032) and Type I IFN responses (\n                    <jats:italic>p<\/jats:italic>\n                    &amp;lt; 0.001) were significantly higher in the MMD groups than those in the control groups. The\n                    <jats:italic>CSK<\/jats:italic>\n                    positively correlated with APC co-inhibition and T cell-co-inhibition. The\n                    <jats:italic>NARS2<\/jats:italic>\n                    negatively correlated with Type I IFN response. The\n                    <jats:italic>SMAD2<\/jats:italic>\n                    negatively correlated with APC co-inhibition and Type I IFN response. The\n                    <jats:italic>PTPN6<\/jats:italic>\n                    positively correlated with HLA, MHC I and Type I IFN responses.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Discussion:<\/jats:bold>\n                    This study provides a comprehensive understanding of the role of OXPHOS in MMD and will contribute to the development of new treatment methods and exploration of MMD pathogenesis.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2024.1417329","type":"journal-article","created":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T12:38:44Z","timestamp":1718109524000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Identification of oxidative phosphorylation-related genes in moyamoya disease by combining bulk RNA-sequencing analysis and machine learning"],"prefix":"10.3389","volume":"15","author":[{"given":"Zhiguang","family":"Han","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junze","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutao","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenyu","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanru","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaoqi","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanli","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shihao","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,6,10]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"e0161975","DOI":"10.1371\/journal.pone.0161975","article-title":"Src family kinases modulate the loss of endothelial barrier function in response to TNF-\u03b1: crosstalk with p38 signaling","volume":"11","author":"Adam","year":"2016","journal-title":"PLoS One"},{"key":"B2","doi-asserted-by":"publisher","first-page":"2544","DOI":"10.4049\/jimmunol.2100109","article-title":"The protein tyrosine phosphatase SHP-1 (PTPN6) but not CD45 (PTPRC) is essential for the ligand-mediated regulation of CD22 in BCR-ligated B cells","volume":"206","author":"Amin","year":"2021","journal-title":"J. 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