{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhao M"],"funding":["Chinese Academy of Sciences (CAS)","Natural Science Foundation of Shandong Province (Shandong Provincial Natural Science Foundation)","China Postdoctoral Science Foundation","Natural Science Foundation of Fujian Province (Fujian Provincial Natural Science Foundation)","Science and Technology Commission of Shanghai Municipality (Shanghai Municipal Science and Technology Commission)","National Natural Science Foundation of China (National Science Foundation of China)"],"pagination":["128"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9705363"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8(1)"],"pubmed_abstract":["Brain calcification is a critical aging-associated pathology and can cause multifaceted neurological symptoms. Cerebral phosphate homeostasis dysregulation, blood-brain barrier defects, and immune dysregulation have been implicated as major pathological processes in familial brain calcification (FBC). Here, we analyzed two brain calcification families and identified calcification co-segregated biallelic variants in the CMPK2 gene that disrupt mitochondrial functions. Transcriptome analysis of peripheral blood mononuclear cells (PBMCs) isolated from these patients showed impaired mitochondria-associated metabolism pathways. In situ hybridization and single-cell RNA sequencing revealed robust Cmpk2 expression in neurons and vascular endothelial cells (vECs), two cell types with high energy e"],"journal":["Cell discovery"],"pubmed_title":["Loss of function of CMPK2 causes mitochondria deficiency and brain calcification."],"pmcid":["PMC9705363"],"funding_grant_id":["81901158","31771139","82025012","2019J02010","ZR2019MH060","81901324","16JC1420202","QYZDJ-SSW-SMC010","82171841","2021J01221","2022M710704","U1905210","81870895","2021M693246"],"pubmed_authors":["Lin KJ","Wang C","Lu YQ","Cheng X","Lin BW","Zhao ZY","Zheng J","Wang N","Zhao M","Zhang YK","Guo XX","Lin XH","Yao XP","Lai LL","Zuo DD","Liu YB","Lin MT","Yang G","Zhao CP","Wang HT","Li YL","Liou CW","Zeng YH","Yang D","Sun Y","Kong QX","Li X","Ye ZL","Zuo E","Huang XJ","Lai T","Huang CW","Su HZ","Luo W","Cen Z","Yan CZ","Lin J","Xiong ZQ","Chen WJ","Hong S","Chen HZ"],"additional_accession":[]},"is_claimable":false,"name":"Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.","description":"Brain calcification is a critical aging-associated pathology and can cause multifaceted neurological symptoms. Cerebral phosphate homeostasis dysregulation, blood-brain barrier defects, and immune dysregulation have been implicated as major pathological processes in familial brain calcification (FBC). Here, we analyzed two brain calcification families and identified calcification co-segregated biallelic variants in the CMPK2 gene that disrupt mitochondrial functions. Transcriptome analysis of peripheral blood mononuclear cells (PBMCs) isolated from these patients showed impaired mitochondria-associated metabolism pathways. In situ hybridization and single-cell RNA sequencing revealed robust Cmpk2 expression in neurons and vascular endothelial cells (vECs), two cell types with high energy e","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2026-07-14T15:59:09.175Z","creation":"2025-04-06T14:08:42.084Z"},"accession":"S-EPMC9705363","cross_references":{"pubmed":["36443312"],"doi":["10.1038/s41421-022-00475-2"]}}