Mitochondria are experiencing a scientific and medical renaissance. It was recognized in 1988 that mitochondrial DNA mutations can contribute to human disease. At that time it was thought that the function of these cellular organelles was generally understood. However, mitochondria are increasingly being recognized as having a complex and widespread role in contributing to many common disorders.
Mitochondrial function has been found to play a role in disorders such as non-insulin dependent diabetes mellitus, Parkinson's disease, Alzheimer's disease, Huntington disease, hearing loss, stroke, liver disease, renal disease and cancer. In addition, a mitochondrial basis is increasingly becoming clear for rare pathologies that cross all ages and many medical specialties. Specific examples include Leigh syndrome, rhabdomyolysis, cardiomyopathy and conduction defects, ophthalmologic problems including optic neuropathy and ophthalmoplegia, and the hereditary spastic paraplegias.
The mitochondrial respiratory chain has been implicated, to varying extents, in the pathophysiology of volatile anesthetic metabolism, aging, free radical generation and scavenging, calcium homeostasis, and programmed cell death. Recognition of the importance of mitochondrial function to human health has expanded so significantly that a Roadmap Initiative in Mitochondrial Disease is now under consideration at the National Institutes of Health.
From a pediatric perspective, mitochondrial disorders of energy generation collectively comprise the most common group of inherited metabolic disease, with a minimum lifetime prevalence of one in 5,000. The current diagnostic evaluation of suspected mitochondrial disease is invasive, costly, and unfortunately, has less than a 50 percent likelihood of identifying a clear etiology. As mitochondrial dysfunction impacts pediatric health across all specialties, it is imperative that research efforts be directed at clinical questions to improve diagnostic approaches and therapies, and basic questions to better understand the biological role of mitochondria in disease.
Dozens of faculty members at The Children's Hospital of Philadelphia are pursuing mitochondria-focused research. Due to the importance of mitochondrial biology in many forms of disease, the clinical backgrounds of these investigators are wide-ranging and include clinical genetics, metabolism, endocrinology, anesthesiology, hematology, oncology, gastroenterology, neonatology, immunology, neurology, pathology, and ophthalmology. The basic science affiliations of these investigators are equally wide-ranging and include pathology, biochemistry and biophysics, biology, genetics, metabolism, animal biology and anthropology.
The Mitochondrial Research Affinity Group has been created to address the needs of this diverse community. Our goals include improved collaborations in mitochondrial research, enhanced interaction between graduate students and faculty, and increased familiarity with research programs involving mitochondria at the University of Pennsylvania and beyond. Our activities will include a regular schedule of talks by group members, special events with invited experts, and a grant program for the purpose of furthering mitochondrial investigations.