... was diagnosed with anaemia and required blood transfusions from 8 months. Upon multiple hospitalizations, symptoms suggested a mitochondrial disease. We confirmed this clinical suspicion by detecting and mapping the mtDNA ‘common deletion’ in a blood sample, from nucleotide position 8469 to 13,447 ( Fig. 1 A,B...

...Sarah Foriel; Julien Beyrath; Ilse Eidhof; Richard J. Rodenburg; Annette Schenck; Jan A. M. Smeitink ABSTRACT Mitochondrial diseases are associated with a wide variety of clinical symptoms and variable degrees of severity. Patients with such diseases generally have a poor prognosis and often...

... to a systemically applied LD50 dose of cyanide did not succumb. The AOX Rosa26 mouse is a useful tool to investigate respiratory control mechanisms and to decipher mitochondrial disease aetiology in vivo . References Acín-Pérez , R. , Fernández-Silva , P. , Peleato , M. L. , Pérez-Martos...

... ABSTRACT Mitochondrial diseases are severe and largely untreatable. Owing to the many essential processes carried out by mitochondria and the complex cellular systems that support these processes, these diseases are diverse, pleiotropic, and challenging to study. Much of our current understanding...

..., are the most frequent cause of heritable mitochondrial diseases. However, the mechanisms by which complex I dysfunction results in disease remain unclear. Here, we describe a Drosophila model of complex I deficiency caused by a homoplasmic mutation in the mitochondrial-DNA-encoded NADH dehydrogenase subunit 2...

... and reproduction in any medium provided that the original work is properly attributed. Adenine nucleotide translocase Mitochondrial disease Mitochondrial biogenesis Alternative oxidase Drosophila melanogaster is a convenient animal model for human genetic diseases, including those...