An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations

An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations

Several homoplasmic pathologic mutations in mitochondrial DNA, such as those causing Leber hereditary optic neuropathy or non-syndromic hearing loss, show incomplete penetrance. Therefore, other elements must modify their pathogenicity. Discovery of these modifying factors is not an easy task becaus...

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Bibliographic Details
Main Authors: Sonia eEmperador, David ePacheu-Grau, M. Pilar eBayona-Bafaluy, Nuria eGarrido-Pérez, Antonio eMartín-Navarro, Manuel José López-Pérez, Julio eMontoya, Eduardo eRuiz-Pesini
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-01-01
Series:Frontiers in Genetics
Subjects:
aminoglycoside
Evolutionary approaches
Compensatory mutation
Incomplete penetrance
pathologic mutation
Mitochondrial ribosomal RNA
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00469/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00469/full

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