Munich

The European Commission is launching an ambitious programme to study a group of rare, mostly untreatable, genetic diseases that have so far attracted little attention from research agencies.

The programme, called EUmito-combat, will study diseases caused by defects in the thousand or so genes that regulate the function of mitochondria. These subcellular structures provide the body's cells with energy by breaking down sugars and fatty acids.

Malfunction of a mitochondrial gene occurs in around one in 10,000 births. About half of these lead to a syndrome known as Leigh's disease, in which muscle weakness and brain degeneration usually result in death within five years.

The aim of the programme, which will support a consortium of 21 research groups from nine European countries, is to develop treatment strategies for these inborn disorders. But it could also have spin-offs for more common diseases such as cancer and Parkinson's disease, in which mitochondria may also be implicated.

Jan Smeitink, a consortium leader who runs a centre for mitochondrial disorders at the University of Nijmegen in the Netherlands, says the backing is “the only way that progress can be made”.

The number of patients in each category of mitochondrial disease is too small to excite much interest from pharmaceutical companies. And existing sources of public funds often require researchers to pursue short-term goals, which Smeitink says “is not the way to work”.

Researchers in the new programme will be expected to work closely with patients. And despite the relative rareness of the conditions, these are not in short supply: “Our centre investigates 300–500 patients a year from the Netherlands and Germany,” says Smeitink. He adds that the programme will help to organize all the basic research being carried out on the disease in various laboratories around Europe.

This basic research involves studying mitochondrial genes, including those encoding proteins of the main mitochondrial energy circuit known as oxidative phosphorylation, or oxphos. This circuit produces adenosine triphosphate (ATP), the chemical energy currency of the cell. “We'll be looking systematically for defects and their cell-biological consequences,” says Smeitink.

The programme also aims to develop diagnostic tools, and to use improved information on the basic biology of mitochondrial disorders to design treatment strategies — including gene therapy.

At present, only one type of mitochondrial disorder can be treated. It is caused by a very rare defect in the synthesis of an oxphos protein called coenzyme Q. Symptoms can be ameliorated, and deterioration delayed, by oral administration of this protein. But in most disorders, simple replacement of the damaged component does not work.