کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1937020 | 1050707 | 2007 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A novel mutation 3090 GÂ >Â A of the mitochondrial 16S ribosomal RNA associated with myopathy
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: A novel mutation 3090 GÂ >Â A of the mitochondrial 16S ribosomal RNA associated with myopathy A novel mutation 3090 GÂ >Â A of the mitochondrial 16S ribosomal RNA associated with myopathy](/preview/png/1937020.png)
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochemical and Biophysical Research Communications - Volume 362, Issue 3, 26 October 2007, Pages 601-605
Journal: Biochemical and Biophysical Research Communications - Volume 362, Issue 3, 26 October 2007, Pages 601-605
نویسندگان
L. Coulbault, B. Deslandes, D. Herlicoviez, M.H. Read, N. Leporrier, S. Schaeffer, A. Mouadil, A. Lombès, F. Chapon, P. Jauzac, S. Allouche,