What is a 'novel' mtDNA mutation - And does 'novelty' really matter?

The hunt for pathogenic mitochondrial DNA (mtDNA) mutations is often fueled by the seeming novelty of mutations that are either nonsynonymous or affect the protein synthesis machinery in patients. In order to determine the novelty of a detected mutation, the working geneticist nearly always consults...

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Detalles Bibliográficos
Autores: Bandelt, H. J., Salas, Antonio, Bravi, Claudio Marcelo
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2006
País:Argentina
Institución:Universidad Nacional de La Plata
Repositorio:SEDICI (UNLP)
Idioma:inglés
OAI Identifier:oai:sedici.unlp.edu.ar:10915/83156
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/83156
Access Level:acceso abierto
Palabra clave:Biología
Database search
Hearing impairment
MITOMAP
mtDNA
Novel mutation
Phylogenetic tree
Prostate cancer
Refractory anemia with ring sideroblasts
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spelling What is a 'novel' mtDNA mutation - And does 'novelty' really matter?Bandelt, H. J.Salas, AntonioBravi, Claudio MarceloBiologíaDatabase searchHearing impairmentMITOMAPmtDNANovel mutationPhylogenetic treeProstate cancerRefractory anemia with ring sideroblastsThe hunt for pathogenic mitochondrial DNA (mtDNA) mutations is often fueled by the seeming novelty of mutations that are either nonsynonymous or affect the protein synthesis machinery in patients. In order to determine the novelty of a detected mutation, the working geneticist nearly always consults MITOMAP - often exclusively. By reanalyzing some case studies of refractory anemia with ring sideroblasts, prostate cancer, and hearing impairment, we demonstrate that the practice of solely relying on MITOMAP can be most misleading. A notorious example is the T1243C mutation, which was assessed to be novel and deemed to be associated with some (rare) disease simply because researchers did not realize that T1243C defines a deep branch in the Eurasian mtDNA phylogeny. The majority of 'novel' mutations suspected of being pathogenic are in actual fact known (and presumably neutral) polymorphisms (although unknown to MITOMAP), and this becomes glaringly evident when proper database searches and straightforward Internet queries are carried out.Instituto Multidisciplinario de Biología Celular2006-10-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArticulohttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdf1073-1082http://sedici.unlp.edu.ar/handle/10915/83156enginfo:eu-repo/semantics/altIdentifier/issn/1434-5161info:eu-repo/semantics/altIdentifier/doi/10.1007/s10038-006-0066-5info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-sa/4.0/Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2024-05-08T12:53:45Zoai:sedici.unlp.edu.ar:10915/83156Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292024-05-08 12:53:45.368SEDICI (UNLP) - Universidad Nacional de La Platafalse
dc.title.none.fl_str_mv What is a 'novel' mtDNA mutation - And does 'novelty' really matter?
title What is a 'novel' mtDNA mutation - And does 'novelty' really matter?
spellingShingle What is a 'novel' mtDNA mutation - And does 'novelty' really matter?
Bandelt, H. J.
Biología
Database search
Hearing impairment
MITOMAP
mtDNA
Novel mutation
Phylogenetic tree
Prostate cancer
Refractory anemia with ring sideroblasts
title_short What is a 'novel' mtDNA mutation - And does 'novelty' really matter?
title_full What is a 'novel' mtDNA mutation - And does 'novelty' really matter?
title_fullStr What is a 'novel' mtDNA mutation - And does 'novelty' really matter?
title_full_unstemmed What is a 'novel' mtDNA mutation - And does 'novelty' really matter?
title_sort What is a 'novel' mtDNA mutation - And does 'novelty' really matter?
dc.creator.none.fl_str_mv Bandelt, H. J.
Salas, Antonio
Bravi, Claudio Marcelo
author Bandelt, H. J.
author_facet Bandelt, H. J.
Salas, Antonio
Bravi, Claudio Marcelo
author_role author
author2 Salas, Antonio
Bravi, Claudio Marcelo
author2_role author
author
dc.subject.none.fl_str_mv Biología
Database search
Hearing impairment
MITOMAP
mtDNA
Novel mutation
Phylogenetic tree
Prostate cancer
Refractory anemia with ring sideroblasts
topic Biología
Database search
Hearing impairment
MITOMAP
mtDNA
Novel mutation
Phylogenetic tree
Prostate cancer
Refractory anemia with ring sideroblasts
description The hunt for pathogenic mitochondrial DNA (mtDNA) mutations is often fueled by the seeming novelty of mutations that are either nonsynonymous or affect the protein synthesis machinery in patients. In order to determine the novelty of a detected mutation, the working geneticist nearly always consults MITOMAP - often exclusively. By reanalyzing some case studies of refractory anemia with ring sideroblasts, prostate cancer, and hearing impairment, we demonstrate that the practice of solely relying on MITOMAP can be most misleading. A notorious example is the T1243C mutation, which was assessed to be novel and deemed to be associated with some (rare) disease simply because researchers did not realize that T1243C defines a deep branch in the Eurasian mtDNA phylogeny. The majority of 'novel' mutations suspected of being pathogenic are in actual fact known (and presumably neutral) polymorphisms (although unknown to MITOMAP), and this becomes glaringly evident when proper database searches and straightforward Internet queries are carried out.
publishDate 2006
dc.date.none.fl_str_mv 2006-10-04
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Articulo
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://sedici.unlp.edu.ar/handle/10915/83156
url http://sedici.unlp.edu.ar/handle/10915/83156
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/issn/1434-5161
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10038-006-0066-5
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
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Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-sa/4.0/
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
dc.format.none.fl_str_mv application/pdf
1073-1082
dc.source.none.fl_str_mv reponame:SEDICI (UNLP)
instname:Universidad Nacional de La Plata
instacron:UNLP
instname_str Universidad Nacional de La Plata
instacron_str UNLP
institution UNLP
reponame_str SEDICI (UNLP)
collection SEDICI (UNLP)
repository.name.fl_str_mv SEDICI (UNLP) - Universidad Nacional de La Plata
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