When the powerhouse runs out of steam

Munich University. Germany: The Federal Ministry for Education and Research has agreed to fund the “mitOmics” project, in which a network of junior researchers will probe the molecular bases of mitochondrial dysfunction.


Junior researchers based at LMU, the Technical University of Munich (TUM) and the Helmholtz Center Munich will now be able to carry out a collaborative study designed to uncover the molecular origins of a rare class of congenital diseases. The Federal Ministry of Education and Research has announced that it will provide 2.1 million euros in financial support for the joint project, entitled “mitOmics” (“Identifying molecular bases of mitochondrial disorders by personalized -omics”).
Several rare hereditary conditions result from malfunctions of mitochondria, the subcellular structures that serve as power plants to provide cells with energy. While the organelles possess their own small complement of genes, they are also dependent on the action of genes in the cell nucleus. This makes it particularly difficult to define and diagnose the genetic and molecular bases of mitochondrial diseases using conventional methodologies.

“So far, little is known about the cellular mechanisms that lead to mitochondrial dysfunction in these patients,” says Dr. Julien Gagneur of LMU’s Gene Center, who will coordinate the new interdisciplinary junior research network. The aim of the collaboration with clinical geneticist Dr. Tobias Haack at the TUM and biologist Dr. Fabiana Perocchi of the Helmholtz Center is to establish a comprehensive framework for the diagnosis of mitochondrial diseases. “We plan to develop a systematic approach which allows us to dissect the molecular mechanisms that give rise to defects in mitochondrial function,” Gagneur explains. Trained as a mathematician, he is a specialist in the analysis of genetic data.
The ultimate aim of the project is to make it possible to identify the underlying cause of the functional defect in each individual patient, and select the most appropriate therapy for each case. This will entail the sequencing of entire genomes from selected patients, and the researchers will also study patients’ cells to unravel the precise impact of genetic defects on mitochondrial function.
A second goal of the project is to apply the lessons learned from this type of genetic disease to other pathological conditions. Furthermore, meeting the challenge of correctly interpreting the huge amounts of data generated by the project and incorporating the findings into a European database will be another major objective of “mitOmics”.