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ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment
المؤلفون المشاركون
Harter, Patrick N.
Mittelbronn, Michel
Braczynski, Anne K.
Vlaho, Stefan
Müller, Klaus
Wittig, Ilka
Blank, Anna-Eva
Tews, Dominique S.
Drott, Ulrich
Kleinle, Stephanie
Abicht, Angela
Horvath, Rita
Plate, Karl H.
Stenzel, Werner
Goebel, Hans H.
Schulze, Andreas
Kieslich, Matthias
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-10، 10ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-10-13
دولة النشر
مصر
عدد الصفحات
10
التخصصات الرئيسية
الملخص EN
TMEM70 is involved in the biogenesis of mitochondrial ATP synthase and mutations in the TMEM70 gene impair oxidative phosphorylation.
Herein, we report on pathology and treatment of ATP synthase deficiency in four siblings.
A consanguineous family of Roma (Gipsy) ethnic origin gave birth to 6 children of which 4 were affected presenting with dysmorphic features, failure to thrive, cardiomyopathy, metabolic crises, and 3-methylglutaconic aciduria as clinical symptoms.
Genetic testing revealed a homozygous mutation (c.317-2A>G) in the TMEM70 gene.
While light microscopy was unremarkable, ultrastructural investigation of muscle tissue revealed accumulation of swollen degenerated mitochondria with lipid crystalloid inclusions, cristae aggregation, and exocytosis of mitochondrial material.
Biochemical analysis of mitochondrial complexes showed an almost complete ATP synthase deficiency.
Despite harbouring the same mutation, the clinical outcome in the four siblings was different.
Two children died within 60 h after birth; the other two had recurrent life-threatening metabolic crises but were successfully managed with supplementation of anaplerotic amino acids, lipids, and symptomatic treatment during metabolic crisis.
In summary, TMEM70 mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Braczynski, Anne K.& Vlaho, Stefan& Müller, Klaus& Wittig, Ilka& Blank, Anna-Eva& Tews, Dominique S.…[et al.]. 2015. ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment. BioMed Research International،Vol. 2015, no. 2015, pp.1-10.
https://search.emarefa.net/detail/BIM-1055573
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Braczynski, Anne K.…[et al.]. ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment. BioMed Research International No. 2015 (2015), pp.1-10.
https://search.emarefa.net/detail/BIM-1055573
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Braczynski, Anne K.& Vlaho, Stefan& Müller, Klaus& Wittig, Ilka& Blank, Anna-Eva& Tews, Dominique S.…[et al.]. ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-10.
https://search.emarefa.net/detail/BIM-1055573
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1055573
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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