Mitochondrial Gene Defects Impair Life Functions
Defects in mitochondria, structures within cells where energy is generated, result in a wide array of debilitating, multi-system diseases and contribute to complex disorders ranging from Parkinson’s disease and Alzheimer’s disease to epilepsy and diabetes. For such crucial biological actors, much remains unknown about how mitochondria function. Researchers led by Marni J. Falk, MD, director of the CHOP Mitochondrial-Genetics Diagnostic Clinic and co-leader of the Mitochondria Research Affinity Group, used a small worm called Caenorhabditis elegans as a model organism in which to study a biological pathway called the respiratory chain, specifically the first large multi-subunit complex of the chain, which is the most common culprit in human mitochondrial disease. The team found one subset of genes impairs the ability of mitochondria to consume oxygen and another group affects how the worms react to anesthesia, findings that help to suggest specific gene candidates that may cause mitochondrial disease in individual patients and clarify the biology of how specific genes may cause disease. This study was published in PLoS ONE.