mitoNET – German Network for mitochondrial disorders

Aim: The principal goal of mitoNET is to establish a network of clinical and basic scientists in order to improve health care for patients with mitochondrial diseases.

Methods: Steps to achieve this are:

• Buildup of a nationwide network of neurological and paediatric departments for recruitment and phenotyping of patients, setup of a web-based register, and conduction of longitudinal studies;

• Comprehensive collection and storage of biological materials including DNA, RNA and myoblasts, providing aliquots to researchers within and outside the net;

• Enhancing the range of diagnostic tools, including new assays to quantify mitochondrial proteins and dynamics, high-throughput genotyping, and a systems approach;

• in vitro investigations of novel treatments including an approach to improve respiratory chain deficiency by fibrate-induction of peroxisome proliferator-activated receptor pathways and an approach to identify mechanisms behind and strategies against propagation of mtDNA mutations;

• Increased collaboration of basic and clinical researchers to boost synergy effects, interdisciplinary cooperation and training initiatives; and

• Increased public and professional awareness.

Conclusion: Progress in the projects of the consortium and the additional boost for collaboration, synergy and communication will lead to an improvement in diagnostics, therapy and medical care for patients with mitochondrial diseases.