کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2068965 | 1078368 | 2010 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch
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کلمات کلیدی
IAA, interrupted aortic archMRC, mitochondrial respiratory chainMLPA, multiplex ligation-dependent probe amplification - MLPA، تکثیر پروتئین وابسته چندگانهnDNA, nuclear DNA - nDNA، DNA هسته ایNDPK, nucleoside diphosphate kinase - NDPK، دی فسفات کیناز نوکلئوزیدmtDNA, mitochondrial DNA - دیانای میتوکندریایی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیوفیزیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch](/preview/png/2068965.png)
چکیده انگلیسی
The aim of this study was to identify the causative genetic lesion in two apparently unrelated newborns having lethal lactic acidosis, multi-organ failure and congenital malformations including interrupted aortic arch, who exhibited mild methylmalonic aciduria, combined mitochondrial respiratory chain deficiency, and marked muscle mitochondrial DNA depletion. A novel mutation in the SUCLG1 gene was identified. Phenotype severity in Succinate-CoA ligase dysfunction appears to be more correlated to the muscle mtDNA content than to the tissue distribution of the heterodimer subunits. Prominent impairment of mitochondrial respiratory chain may result in deep ravages in developmental tissues leading to multiple organ failure and malformations.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Mitochondrion - Volume 10, Issue 4, June 2010, Pages 362–368
Journal: Mitochondrion - Volume 10, Issue 4, June 2010, Pages 362–368
نویسندگان
Henry Rivera, Begoña Merinero, Mercedes Martinez-Pardo, Ignacio Arroyo, Pedro Ruiz-Sala, Belen Bornstein, Clara Serra-Suhe, Esther Gallardo, Ramon Marti, Maria J. Moran, Cristina Ugalde, Luis A. Perez-Jurado, Antoni L. Andreu, Rafael Garesse,