کد مقاله کد نشریه سال انتشار مقاله انگلیسی ترجمه فارسی نسخه تمام متن
8951470 1645824 2018 35 صفحه PDF سفارش دهید دانلود رایگان
عنوان انگلیسی مقاله ISI
Skin cells for use in an alternate diagnostic method for Duchenne muscular dystrophy
ترجمه فارسی عنوان
سلول های پوست برای استفاده در یک روش تشخیصی جایگزین برای دیستروفی عضلانی دوشن
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موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
چکیده انگلیسی
The importance of molecular diagnosis and identification of disease-associated variants for Duchenne muscular dystrophy (DMD) is evident in the age of gene-based therapies and personalised medicine. Detection of the causative DMD variant and determination of its effects on dystrophin expression is best achieved by analysis of RNA extracted from muscle biopsy material. However, this is not done routinely, as the procedure can be traumatic, especially to young children, and carries risk of complications related to the use of anaesthetic. As skin biopsies are safer and straightforward to perform than muscle biopsies, we investigated the utility of cultured human epidermal melanocytes and dermal fibroblasts as alternative tools for RNA-based diagnosis of DMD. Shallow skin biopsies from 5 boys with genetically confirmed diagnoses of DMD were used to culture fibroblasts and melanocytes. Biopsies were sampled, and tolerated without complications, using local anaesthetic cream. Dystrophin expression in the cultured cells was assessed using immunocytochemical staining, quantitative real-time PCR and cDNA sequencing methodologies. We observed differential expression of the full-length dystrophin muscle transcript, with significantly more robust expression in melanocytes, compared to that in fibroblasts. Our results suggest that cultured skin melanocytes may present an alternative tool for RNA-based genetic diagnosis of DMD.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 28, Issue 7, July 2018, Pages 553-563
نویسندگان
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