کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10771454 1050842 2005 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A novel heteroplasmic tRNALeu(CUN) mtDNA point mutation associated with chronic progressive external ophthalmoplegia
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
A novel heteroplasmic tRNALeu(CUN) mtDNA point mutation associated with chronic progressive external ophthalmoplegia
چکیده انگلیسی
We have sequenced all mitochondrial tRNA genes from a patient with chronic progressive external ophthalmoplegia (CPEO) and mitochondrial myopathy, who had no detectable large mtDNA deletions. Direct sequencing failed to detect previously reported mutations and showed a heteroplasmic mutation at nucleotide 12,276 in the tRNALeu(CUN) gene, in the dihydrouridine stem, which is highly conserved through the species during evolution. RFLP analyses confirmed that 18% of muscle mtDNA harbored the mutation, while it was absent from DNA of fibroblasts and lymphocytes of the proband and in 110 patients with other encephalomyopathies. To date, besides large and single nucleotide deletions, several point mutations on mitochondrial tRNA genes have been reported in CPEO patients, but only three were in the gene coding for tRNALeu(CUN).
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochemical and Biophysical Research Communications - Volume 327, Issue 3, 18 February 2005, Pages 675-678
نویسندگان
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