The German network for mitochondrial disorders (mitoNET)

Aims: The German network for mitochondrial disorders has been funded by the German Ministry of Education and Research since 2009 as 1 of 16 networks on rare diseases (01GM1113A). The main goal is to improve health care for patients with mitochondrial diseases.

Methods: Eight neurological and thirteen pediatric clinical centers with expertise in this field are part of the horizontal clinical network. They are responsible for the patient recruitment and care, as well as for collection and storage of clinical data in an existing Web-based registry (MiToRegister). Within mitoNET two biobanks have been established for comprehensive collection and storage of biological material such as DNA, RNA, plasma as well as myoblasts and fibroblasts from diagnostic biopsies. Four research projects are aimed at enhancing the range of diagnostic tools by developing new techniques and one subproject concentrates on in vitro and in vivo investigations of novel therapies.

Results: Meanwhile, patient data from over 650 first visits and 200 follow-up visits were stored in the registry. A total of 710 patient samples, 200 control samples, and 100 cell cultures have been collected within the existing biobanks. Using whole exome sequencing, novel genes were identified for a subset of patients. In one subproject, a simple and highly sensitive 2D electrophoretic fluorescent assay was developed to quantify in one step the mitochondrial protein complexes. Moreover, the results from in vitro investigations in one subproject have facilitated the start of a double-blind, placebo-controlled, randomized withdrawal trial on the effect of fibrates in children.

Conclusion: Although a young network, the mitoNET has already boosted mitochondrial research and collaboration in Germany.