کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8343825 | 1541560 | 2014 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Hyperhomocysteinemia: Related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues
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کلمات کلیدی
THFMethionine cycleFolate cycleHHcyAHCYS-adenosylhomocysteinecobalamin CMTHFRWESNTDCHDBHMTSAHCThCBSNGSWGSHcySAMcystathionine-γ-lyase - cystationine-g-lyaseMS/MS - MS / MSS-adenosylmethionine - اس-ادنوزیل متیونینtetrahydrofolate - تتراهیدروفولاتNext generation sequencing - توالی نسل بعدیWhole exome sequencing - توالی کامل exomeWhole genome sequencing - توالی یابی کامل ژنومtHcy - تیسیDown syndrome - سندرم داونcystathionine-β-synthase - سیستاتیونین بتا سنتازNOC - شبTandem mass spectroscopy - طیف سنجی جرم دو بعدیNewborn screening - غربالگری نوزادانMat - ماتMethylenetetrahydrofolate reductase - متیلن تتراهیدروفولات ردوکتازmethionine adenosyltransferase - متیونین آدنوزیلت ترانسفرازNeural tube defects - نقص لوله عصبیCongenital heart defects - نقص مادرزادی قلبhomocysteine - هوموسیستئینHyperhomocysteinemia - هیپر هوموسایستنمیcobalamin - کبالالین
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
Homocysteine, a sulfur-containing amino acid derived from the methionine metabolism, is located at the branch point of two pathways of the methionine cycle, i.e. remethylation and transsulfuration. Gene abnormalities in the enzymes catalyzing reactions in both pathways lead to hyperhomocysteinemia. Hyperhomocysteinemia is associated with increased risk for congenital disorders, including neural tube closure defects, heart defects, cleft lip/palate, Down syndrome, and multi-system abnormalities in adults. Since hyperhomocysteinemia is known to affect the extent of DNA methylation, it is likely that abnormal DNA methylation during embryogenesis, may be a pathogenic factor for these congenital disorders. In this review we highlight the importance of homocysteinemia by describing the genes encoding for enzymes of homocysteine metabolism relevant to the clinical practice, especially cystathionine-β-synthase and methylenetetrahydrofolate reductase mutations, and the impairment of related metabolites levels. Moreover, a possible correlation between hyperhomocysteine and congenital disorders through the involvement of abnormal DNA methylation during embryogenesis is discussed. Finally, the relevance of present and future diagnostic tools such as tandem mass spectrometry and next generation sequencing in newborn screening is highlighted.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 113, Issues 1â2, SeptemberâOctober 2014, Pages 27-33
Journal: Molecular Genetics and Metabolism - Volume 113, Issues 1â2, SeptemberâOctober 2014, Pages 27-33
نویسندگان
Vito Iacobazzi, Vittoria Infantino, Alessandra Castegna, Generoso Andria,