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Using in‐line probing to characterize pathogenic mutations in human mitochondrial tRNAs
Author(s) -
Still Brady,
Her Koua,
Chihade Joseph
Publication year - 2013
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.27.1_supplement.1011.9
Subject(s) - mitochondrial myopathy , aminoacylation , transfer rna , mitochondrial dna , mutant , myoclonic epilepsy , mitochondrion , mutation , biology , genetics , microbiology and biotechnology , rna , neuroscience , epilepsy , gene
In‐line probing (Regulski, E.E. and Breaker, R.R., (2008) Methods Mol. Biol. 419, 53) provides a straightforward method for probing RNA structure. We have used this technique to characterize the human mitochondrial tRNA Ala and four tRNA mutants associated with mitochondrial pathologies, including MERFF (myoclonic epilepsy with ragged red fibers), ophthalmoplegia, and mitochondrial myopathy. Our data suggests that two of these mutants, C5650T and A5628G, adopt abnormal secondary structures at room temperature, which may lead to reduced aminoacylation levels. This work was supported by Carleton College and the Howard Hughes Medical Institute.