کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1915539 1535190 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNALeu(CUN) mutation of mitochondrial DNA
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNALeu(CUN) mutation of mitochondrial DNA
چکیده انگلیسی

We sequenced all genes of mitochondrial tRNAs of a patient with chronic progressive external ophthalmoplegia with 5% ragged red fibres and 15% COX-negative fibres but without macrorearrangements of mitochondrial DNA (mtDNA). Direct sequencing showed a novel heteroplasmic G > A substitution in position 12316 of tRNALeu(CUN) gene. This change destroys a highly conserved G–C base coupling in tRNA TψC branch. By RFLP analysis we could demonstrate different degrees of heteroplasmy in different patient's tissues. This alteration, absent in a population of 110 patients with different encephalomyopathies, can be considered pathogenic: it is the tenth tRNALeu(CUN) pathogenic mutation described up to date.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 272, Issues 1–2, 15 September 2008, Pages 106–109
نویسندگان
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