Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review

[Background] Mitochondrial DNA (mtDNA) encodes 37 genes necessary for synthesizing 13 essential subunits of the oxidative phosphorylation system. mtDNA alterations are known to cause mitochondrial disease (MitD), a clinically heterogeneous group of disorders that often present with neuropsychiatric...

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Detalles Bibliográficos
Autores: Valiente-Pallejà, Alba, Tortajada, Juan, Bulduk, Bengisu K., Vilella, Elisabet, Garrabou, Glòria, Muntané, Gerard, Martorell, Lourdes
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/272320
Acceso en línea:http://hdl.handle.net/10261/272320
Access Level:acceso abierto
Palabra clave:Mitochondrial DNA
Mitochondrial diseases
Neurological diseases
Psychiatric diseases
Ageing
Postmortem
Descripción
Sumario:[Background] Mitochondrial DNA (mtDNA) encodes 37 genes necessary for synthesizing 13 essential subunits of the oxidative phosphorylation system. mtDNA alterations are known to cause mitochondrial disease (MitD), a clinically heterogeneous group of disorders that often present with neuropsychiatric symptoms. Understanding the nature and frequency of mtDNA alterations in health and disease could be a cornerstone in disentangling the relationship between biochemical findings and clinical symptoms of brain disorders. This systematic review aimed to summarize the mtDNA alterations in human brain tissue reported to date that have implications for further research on the pathophysiological significance of mtDNA alterations in brain functioning.