ATP Synthase Diseases of Mitochondrial Genetic Origin
نویسندگان
چکیده
1 Institut de Biochimie et Génétique Cellulaires, Centre National de la Recherche Scientifique UMR 5095, Université de Bordeaux, Bordeaux, France, 2 Department of Life Sciences, Imperial College London, London, United Kingdom, 3 Department of Structural Biology, Max-Planck-Institute of Biophysics, Frankfurt, Germany, 4 Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland
منابع مشابه
Nuclear genetic defects of mitochondrial ATP synthase.
Disorders of ATP synthase, the key enzyme of mitochondrial energy provision belong to the most severe metabolic diseases presenting as early-onset mitochondrial encephalo-cardiomyopathies. Up to now, mutations in four nuclear genes were associated with isolated deficiency of ATP synthase. Two of them, ATP5A1 and ATP5E encode enzyme's structural subunits alpha and epsilon, respectively, while th...
متن کاملSequencing and Molecular Analysis of ATP 6 and ATP 8 of Mitochondrial Genome in Khorasanian Native Chickens
In order to perform breeding programs and improve production of native chickens, preserving genetic diversity in different areas of Iran is important due to the reduced available population. Genome sequencing is considered the most functional approach to determine the phylogeny relation between close populations. The aim of the present study was the evaluation of the phylogeny and genetic nucle...
متن کاملATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment
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, cardiomyopath...
متن کاملMitochondrial protein sorting as a therapeutic target for ATP synthase disorders
Mitochondrial diseases are systemic, prevalent and often fatal; yet treatments remain scarce. Identifying molecular intervention points that can be therapeutically targeted remains a major challenge, which we confronted via a screening assay we developed. Using yeast models of mitochondrial ATP synthase disorders, we screened a drug repurposing library, and applied genomic and biochemical techn...
متن کاملMitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches.
In mammals, the majority of cellular ATP is produced by the mitochondrial F1F(O)-ATP synthase through an elaborate catalytic mechanism. While most subunits of this enzymatic complex are encoded by the nuclear genome, a few essential components are encoded in the mitochondrial genome. The biogenesis of this multi-subunit enzyme is a sophisticated multi-step process that is regulated on levels of...
متن کاملMitochondrial diseases and genetic defects of ATP synthase.
ATP synthase is a key enzyme of mitochondrial energy conversion. In mammals, it produces most of cellular ATP. Alteration of ATP synthase biogenesis may cause two types of isolated defects: qualitative when the enzyme is structurally modified and does not function properly, and quantitative when it is present in insufficient amounts. In both cases the cellular energy provision is impaired, and ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2018