Aims

Objectives

  1. Boost awareness of mitochondrial disorders.
  2. Improve clinical management of patients with mitochondrial disorders.
  3. Strengthen exchange between clinical research and basic research groups.
  4. Improve capabilities to diagnose mitochondrial disorders.
  5. Establish a web-based register of clinical data and a biomaterial bank.
  6. Explore novel treatment options.

Summary

The principal goal of mitoNET is to establish a network of clinical centres in order to improve health care for patients with mitochondrial diseases. Steps to achieve this are:

  1. Buildup of a nationwide network of neurological and paediatric departments for recruitment and phenotyping of patients, setup a of a web-based register, and conduction of longitudinal studies.
  2. Comprehensive collection and storage of biological materials including DNA, RNA and myoblasts, providing aliquots to researchers within and outside of the net.
  3. Enhancing the range of diagnostic tools, including new assays to quantify mitochondrial proteins and dynamics, high-throughput genotyping, a systems approach and advanced brain imaging.
  4. in vitro investigations of novel treatments, including an approach to improve OXPHOS deficiency by fibrate-induction of peroxisome proliferator-activated receptor pathways and an approach to identify mechanisms behind and strategies against propagation of mtDNA mutations.
  5. Increased collaboration of basic researchers to boost synergy effects, interdisciplinary cooperation and training initiatives.
  6. Increased public and professional awareness.

The structure of the consortium and the balanced participation of scientists and clinicians will enable translation of results from basic science to clinical research.