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 principales:	Bandelt, H. J., Salas, Antonio, Bravi, Claudio Marcelo
Formato:	Articulo
Lenguaje:	Inglés
Publicado:	2006
Materias:	Biología Database search Hearing impairment MITOMAP mtDNA Novel mutation Phylogenetic tree Prostate cancer Refractory anemia with ring sideroblasts
Acceso en línea:	http://sedici.unlp.edu.ar/handle/10915/83156
Aporte de:	SEDICI (UNLP) de Universidad Nacional de La Plata

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record_format	dspace
institution	Universidad Nacional de La Plata
institution_str	I-19
repository_str	R-120
collection	SEDICI (UNLP)
language	Inglés
topic	Biología Database search Hearing impairment MITOMAP mtDNA Novel mutation Phylogenetic tree Prostate cancer Refractory anemia with ring sideroblasts
spellingShingle	Biología Database search Hearing impairment MITOMAP mtDNA Novel mutation Phylogenetic tree Prostate cancer Refractory anemia with ring sideroblasts Bandelt, H. J. Salas, Antonio Bravi, Claudio Marcelo What is a 'novel' mtDNA mutation - And does 'novelty' really matter?
topic_facet	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.
format	Articulo Articulo
author	Bandelt, H. J. Salas, Antonio Bravi, Claudio Marcelo
author_facet	Bandelt, H. J. Salas, Antonio Bravi, Claudio Marcelo
author_sort	Bandelt, H. J.
title	What is a 'novel' mtDNA mutation - And does 'novelty' really matter?
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?
publishDate	2006
url	http://sedici.unlp.edu.ar/handle/10915/83156
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bdutipo_str	Repositorios
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What is a 'novel' mtDNA mutation - And does 'novelty' really matter?

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