Mitochondrial DNA haplogroup variation in hydrocephalus
Mitochondrial DNA haplogroup variation in hydrocephalus
Abstract Hydrocephalus is a genetically and phenotypically heterogenous condition with complex etiology. Ciliary dysfunction has been shown to play a role, either through interference with signaling functions in primary cilia, cerebrospinal fluid flow by motile cilia, or both. Ciliary function is highly energy-dependent, consequently, variation in mitochondrial OXPHOS function might be a susceptibility factor for hydrocephalus. Furthermore, familial hydrocephalus exhibits preferential maternal inheritance. Mitochondrial DNA (mtDNA) haplogroups, have been associated with different characteristics of OXPHOS function as well as susceptibility to autism spectrum disorders, a frequent co-morbidity of hydrocephalus. This nested case-cohort study, a substudy of the iPSYCH study, used mtDNA data from 191 hydrocephalus cases and 24,831 population controls and found no association between hydrocephalus and any mtDNA haplogroup. Likewise, the distribution of European macro-haplogroups, HV, JT, and UK, did not differ between 172 hydrocephalus cases and 21,850 population controls. Thus, mtDNA haplogroups are not susceptibility factors for hydrocephalus.
Hagen Christian M、B?kvad-Hansen Marie、Melbye Mads、B?rglum Anders、Munch Tina N、Hougaard David M、Mortensen Preben B、Hedley Paula L、Werge Thomas M、Geller Frank、Christiansen Michael、Nordentoft Merete、Bybjerg-Grauholm Jonas、Elson Joanna
Department for Congenital Disorders, Statens Serum Institut||The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCHDepartment for Congenital Disorders, Statens Serum Institut||The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCHDepartment of Clinical Medicine, University of Copenhagen||Department of Genetics, Stanford University School of Medicine, Stanford||Centre for Fertility and Health, Norwegian Institute of Public Health||K.G. Jebsen Center for Genetic Epidemiology, Norwegian university of Science and TechnologyThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH||Institute of Medical Genetics, Aarhus UniversityDepartment of Epidemiology Research, Statens Serum Institut||Department of Neurosurgery, Copenhagen University Hospital||Department of Clinical Medicine, University of CopenhagenDepartment for Congenital Disorders, Statens Serum Institut||The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCHThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH||Center for Register Research, Institute of Economics, Aarhus UniversityDepartment for Congenital Disorders, Statens Serum Institut||The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCHThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH||Mental Health Centre, Sct Hans, Capital Region of DenmarkDepartment of Epidemiology Research, Statens Serum InstitutDepartment for Congenital Disorders, Statens Serum Institut||The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH||Department of Biomedical Science, University of CopenhagenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH||Mental Health Centre, Capital Region of DenmarkDepartment for Congenital Disorders, Statens Serum Institut||The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCHDepartment for Congenital Disorders, Statens Serum Institut||University of Newcastle
基础医学神经病学、精神病学遗传学
Mitochondrial DNAMitochondrial haplogroupsHydrocephalusCiliopathiesOxidative Phosphorylation
Hagen Christian M,B?kvad-Hansen Marie,Melbye Mads,B?rglum Anders,Munch Tina N,Hougaard David M,Mortensen Preben B,Hedley Paula L,Werge Thomas M,Geller Frank,Christiansen Michael,Nordentoft Merete,Bybjerg-Grauholm Jonas,Elson Joanna.Mitochondrial DNA haplogroup variation in hydrocephalus[EB/OL].(2025-03-28)[2025-05-31].https://www.medrxiv.org/content/10.1101/2022.08.15.22278803.点此复制
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