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Avila J, Gómez-Ramos A, Soriano E. Variations in brain DNA. Front Aging Neurosci. 2014;6:323doi: 10.3389/fnagi.2014.00323.
Avila, J., Gómez-Ramos, A., & Soriano, E. (2014). Variations in brain DNA. Frontiers in aging neuroscience, 6323. https://doi.org/10.3389/fnagi.2014.00323
Avila, Jesús, et al. "Variations in brain DNA." Frontiers in aging neuroscience vol. 6 (2014): 323. doi: https://doi.org/10.3389/fnagi.2014.00323
Avila J, Gómez-Ramos A, Soriano E. Variations in brain DNA. Front Aging Neurosci. 2014 Nov 25;6:323. doi: 10.3389/fnagi.2014.00323. eCollection 2014. PMID: 25505410; PMCID: PMC4243573.
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Front Aging Neurosci. 2014 Nov 25;6:323. doi: 10.3389/fnagi.2014.00323. eCollection 2014.

Variations in brain DNA.

Frontiers in aging neuroscience

Jesús Avila, Alberto Gómez-Ramos, Eduardo Soriano

Affiliations

  1. 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.
  2. 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.

PMID: 25505410 PMCID: PMC4243573 DOI: 10.3389/fnagi.2014.00323

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.

Keywords: Alzheimer disease; DNA; SNV; brain diseases; sequence analysis; somatic mutations

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