کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8343639 | 1541552 | 2017 | 47 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
The role of epigenetics in lysosomal storage disorders: Uncharted territory
ترجمه فارسی عنوان
نقش اپی ژنتیک در اختلالات ذخیره سازی لیزوزوم: سرزمین ناشناخته
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کلمات کلیدی
MPS IVAMucopolysaccharidosis type IVaIDSHDACsDnmtGLDaspartylglucosaminuriaMBDNPCCpGN-acetylgalactosamine-6-sulfate sulfatasemiRNAsLSDsAGUHDACiDNA methyltransferase - DNA متیل ترانسفرازGloboid cell leukodystrophy - leukodystrophy سلول گلوبیدlysosomal storage disorders - اختلالات ذخیره سازی لیزوزومیIduronate-2-sulfatase - ادورونات 2-سولفاتازEpigenetics - اپی ژنتیکNiemann-Pick disease type C - بیماری Niemann-Pick نوع CFabry disease - بیماری فابیParkinson's disease - بیماری پارکینسونGaucher disease - بیماری گوچهHistone modifications - تغییرات هیستونRISC - خطرmicroRNAs - ریز آرانایGALNS - سرماخوردگیCytosine-phosphate-Guanine - سیتوزین-فسفات-گوانینDNA methylation - متیلاسیون DNARNA Induced Silencing Complex - مجتمع خاموش کننده RNA منجر شده استhistone deacetylase inhibitor - مهار کننده هیستون داسیدلازGenotype/phenotype correlation - همبستگی ژنوتیپ / فنوتیپhistone deacetylases - هیستون deacetylaseshistone acetyltransferases - هیستون استیل ترانسفرازHATs - کلاه
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
چکیده انگلیسی
The study of the contribution of epigenetic mechanisms, including DNA methylation, histone modifications, and microRNAs, to human disease has enhanced our understanding of different cellular processes and diseased states, as well as the effect of environmental factors on phenotypic outcomes. Epigenetic studies may be particularly relevant in evaluating the clinical heterogeneity observed in monogenic disorders. The lysosomal storage disorders are Mendelian disorders characterized by a wide spectrum of associated phenotypes, ranging from neonatal presentations to symptoms that develop in late adulthood. Some lack a tight genotype/phenotype correlation. While epigenetics may explain some of the discordant phenotypes encountered in patients with the same lysosomal storage disorder, especially among patients sharing the same genotype, to date, few studies have focused on these mechanisms. We review three common epigenetic mechanisms, DNA methylation, histone modifications, and microRNAs, and highlight their applications to phenotypic variation and therapeutics. Three specific lysosomal storage diseases, Gaucher disease, Fabry disease, and Niemann-Pick type C disease are presented as prototypical disorders with vast clinical heterogeneity that may be impacted by epigenetics. Our goal is to motivate researchers to consider epigenetics as a mechanism to explain the complexities of biological functions and pathologies of these rare disorders.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 122, Issue 3, November 2017, Pages 10-18
Journal: Molecular Genetics and Metabolism - Volume 122, Issue 3, November 2017, Pages 10-18
نویسندگان
Shahzeb Hassan, Ellen Sidransky, Nahid Tayebi,