The study team found that one subset of genes impairs the ability of mitochondria to consume oxygen, called respiratory capacity, in C. elegans. Another group affects how the worms react to anesthesia. "Some children with mitochondrial complex I disease are hypersensitive to anesthesia, so this new understanding may be important in guiding their clinical management," said Falk.

Because mitochondrial diseases in humans comprise a large number of different disorders showing a wide range of severity, understanding the differences in contributions from different genes within the respiratory chain may help researchers better understand why mitochondrial dysfunction causes specific problems in people. Even better, says Falk, such research points to genes that might be targeted in potential treatments.

Dr. Falk's team continues to work to explore the many different consequences of mitochondrial respiratory chain dysfunction in animal models, and ways in which these consequences might themselves be treated. This work helps to suggest specific genes that may be the cause of mitochondrial disease in individual patients, as well as clarify the biology of how specific genes may cause disease. "Such work might one day benefit patients by pointing to specific drugs that alleviate secondary problems that arise when the respiratory chain cannot do its job," added Falk.

Source: Children's Hospital of Philadelphia