Article
The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.
Human molecular genetics - 15 Feb 2014
Smith Paul M, Elson Joanna L, Greaves Laura C, Wortmann Saskia B, Rodenburg Richard J T, Lightowlers Robert N, Chrzanowska-Lightowlers Zofia M A, Taylor Robert W, Vila-Sanjurjo Antón
Abstract excerpt
Mutations of mitochondrial DNA are linked to many human diseases. Despite the identification of a large number of variants in the mitochondrially encoded rRNA (mt-rRNA) genes, the evidence supporting their pathogenicity is, at best, circumstantial. Establishing the pathogenicity of these variations is of major diagnostic importance. Here, we aim to estimate the disruptive effect of mt-rRNA variations on the...
Topics
- Computer Simulation
- Conserved Sequence
- DNA Mutational Analysis
- Genetic Association Studies
- Humans
- Models, Molecular
- Mutation
- Neoplasms
- Nucleic Acid Conformation
- RNA
- RNA, Mitochondrial
- RNA, Ribosomal