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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Bibliographic Details
Authors: Valiente-Pallejà, Alba, Tortajada, Juan, Bulduk, Bengisu K., Vilella, Elisabet, Garrabou, Glòria, Muntané, Gerard, Martorell, Lourdes
Format: article
Status:Published version
Publication Date:2022
Country:España
Institution:Consejo Superior de Investigaciones Científicas (CSIC)
Repository:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/272320
Online Access:http://hdl.handle.net/10261/272320
Access Level:Open access
Keyword:Mitochondrial DNA
Mitochondrial diseases
Neurological diseases
Psychiatric diseases
Ageing
Postmortem
Description
Summary:[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.