Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-4261
Hobbie, S N; Bruell, C M; Akshay, S; Kalapala, S K; Shcherbakov, D; Böttger, E C (2008). Mitochondrial deafness alleles confer misreading of the genetic code. Proceedings of the National Academy of Sciences of the United States of America (PNAS), 105(9):3244-3249.
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Despite the fact that important genetic diseases are caused by mutant mitochondrial ribosomes, the molecular mechanisms by which such ribosomes result in a clinical phenotype remain largely unknown. The absence of experimental models for mitochondrial diseases has also prevented the rational search for therapeutic interventions. Here, we report on the construction of bacterial hybrid ribosomes that contain various versions of the mitochondrial decoding region of ribosomal RNA. We show that the pathogenic mutations A1555G and C1494T decrease the accuracy of translation and render the ribosomal decoding site hypersusceptible to aminoglycoside antibiotics. This finding suggests misreading of the genetic code as an important molecular mechanism in disease pathogenesis.
|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > Institute of Medical Microbiology|
|DDC:||570 Life sciences; biology|
610 Medicine & health
|Deposited On:||10 Nov 2008 13:07|
|Last Modified:||27 Nov 2013 16:20|
|Publisher:||National Academy of Sciences|
|Additional Information:||Copyright: National Academy of Sciences USA|
|Citations:||Web of Science®. Times Cited: 45|
Scopus®. Citation Count: 46
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