Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1937020 | Biochemical and Biophysical Research Communications | 2007 | 5 Pages |
Abstract
We describe a young woman who presented with a progressive myopathy since the age of 9. Spectrophotometric analysis of the respiratory chain in muscle tissue revealed combined and profound complex I, III, IIÂ +Â III, and IV deficiency ranging from 60% to 95% associated with morphological and histochemical abnormalities of the muscle. An exhaustive screening of mitochondrial transfer and ribosomal RNAs showed a novel GÂ >Â A substitution at nucleotide position 3090 which was detected only in urine sediment and muscle of the patient and was not found in her mother's blood cells and urine sample. We suggest that this novel de novo mutation in the 16S ribosomal RNA, a nucleotide which is highly conserved in different species, would impair mitochondrial protein synthesis and would cause a severe myopathy.
Keywords
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
L. Coulbault, B. Deslandes, D. Herlicoviez, M.H. Read, N. Leporrier, S. Schaeffer, A. Mouadil, A. Lombès, F. Chapon, P. Jauzac, S. Allouche,