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Untangling the knot of
mitochondrial disease | Karen Titus
Experts in mitochondrial disease are a persevering lot. Like Tristan and Isolde filling their lungs for Act 2, they're in it for the long haul.
"It's a field I've been in for 35 years," says Michael J. Bennett, PhD, professor of pathology and laboratory medicine, Perelman School of Medicine at the University of Pennsylvania, and director, Metabolic Disease Laboratory, Children's Hospital of Philadelphia. "And we're all still learning, basically."
"It's a difficult field," agrees Brian Robinson, PhD, director of the mitochondrial research laboratory, Hospital for Sick Children (SickKids), Toronto. "Even though I've been in it for 30 years, it's hard for me to figure out where it's headed."
|  | | Patients with mitochondrial disease generally search for years for a diagnosis, often consulting multiple specialists and undergoing numerous tests before the appropriate tests are performed, say Drs. Douglas Wallace (left) and Michael Bennett. "People ought to be aware that it's a possibility from a clinical perspective," Dr. Bennett says, "not something you suddenly realize you haven't done at the end." | "I've been at this now for 40 years," says Douglas C. Wallace, PhD, the Michael and Charles Barnett Chair of Pediatric Mitochondrial Medicine and Metabolic Disease, and director, Center for Mitochondrial and Epigenomic Medicine, CHOP. "When I started, nobody thought that studying mitochondrial DNA would be of any interest clinically." Only in recent years has medicine done an about-face on the matter, says Dr. Wallace, who likes to talk about the need to upend 150 years of Mendelian genetics in order to arrive at a proper diagnosis of mitochondrial disease.
If those are the experts talking, what are the prospects for physicians whose outlooks are less mitochondrial-centric?
The pace may be about to pick up, actually. While there's nothing easy about understanding and diagnosing mitochondrial disease—especially in children—breakthroughs appear imminent and could put laboratories in the thick of mitochondrial diagnostics. "These diseases are extraordinarily common, not rare," says Dr. Wallace, who is also professor, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania. (A common estimate is one in 4,000 or 5,000 lifetime risk, though others, including those interviewed for this article, suggest the risk may be one in 2,000, or even less, for children.) "So the need for this testing is going to be great in almost every path lab." [more]
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