title: Variations in brain DNA.
abstract: It is assumed that DNA sequences are conserved in the diverse cell types present in a multicellular organism like the human being. Thus, in order to compare the sequences in the genome of DNA from different individuals, nucleic acid is commonly isolated from a single tissue. In this regard, blood cells are widely used for this purpose because of their availability. Thus blood DNA has been used to study genetic familiar diseases that affect other tissues and organs, such as the liver, heart, and brain. While this approach is valid for the identification of familial diseases in which mutations are present in parental germinal cells and, therefore, in all the cells of a given organism, it is not suitable to identify sporadic diseases in which mutations might occur in specific somatic cells. This review addresses somatic DNA variations in different tissues or cells (mainly in the brain) of single individuals and discusses whether the dogma of DNA invariance between cell types is indeed correct. We will also discuss how single nucleotide somatic variations arise, focusing on the presence of specific DNA mutations in the brain.
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), ISCIII Madrid, Spain ; Centro de Biología Molecular Severo Ochoa (CSIC-UAM), Neurobiology Laboratory Madrid, Spain.
authors.forename: Jesús
authors.initials: J
authors.lastname: Avila
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), ISCIII Madrid, Spain ; Centro de Biología Molecular Severo Ochoa (CSIC-UAM), Neurobiology Laboratory Madrid, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Gómez-Ramos
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), ISCIII Madrid, Spain ; Department of Cell Biology, Faculty of Biology, University of Barcelona, Developmental Neurobiology and Regeneration Lab, Parc Científic de Barcelona Barcelona, Spain ; Vall d'Hebrón Institut de Recerca (VHIR) Barcelona, Spain.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Soriano
keywords: Alzheimer disease; DNA; SNV; brain diseases; sequence analysis; somatic mutations