High Costs of Mitochondrial Diseases Spell Urgent Need for Better Therapies

Mutated genes may cause a group of disorders called as Mitochondrial diseases. The high cost of these disorders may point the urgent need for better therapies.

A group of disorders caused by gene mutations may result in mitochondrial diseases. Mutated genes may impair energy production in a patient’s cell often with severe effects. However, when patients with mitochondrial diseases are hospitalized, they may lead to high medical costs, and result in higher-than-typical rates of comorbid diseases and in-hospital mortality.//

Researchers who analyzed those costs using national databases say their findings underscore the importance of developing preventive strategies and therapies for these illnesses.

Novel Discovery Could Lead to Treatments for Mitochondrial Diseases
Embryos with 'heteroplasmy', or the presence of both maternal and paternal mitochondrial DNA, have been successfully created by researchers from University of Missouri.

‘High costs for treating mitochondrial disorders may point the urgent need for better therapies.’

"There have been few systematic investigations of the public health burden of mitochondrial disease, even as these disorders are being diagnosed more frequently than ever before," said study leader Shana E. McCormack, MD, a pediatric researcher at Children's Hospital of Philadelphia (CHOP). "We hope that our initial efforts to define the scope of this problem will lead to better medical practice in helping patients and families."

McCormack and colleagues from multiple clinical areas at CHOP published their research on April 27, 2017 in Molecular Genetics and Metabolism.

Tiny structures found in large numbers within cells, mitochondria function as cellular power plants, extracting energy from nutrients to drive the body. They carry their own DNA, distinct from the better-known DNA inside a cell's nucleus.

Master Network of Central Signaling Response Found in Mitochondrial Energy Diseases
A master network of signaling molecules has been identified by researchers that acts like a fuse box to regulate the cellular effects of defective energy flow in mitochondrial respiratory chain diseases—a diverse set of difficult-to-treat genetic-based energy disorders.

Disease-causing mutations in either mitochondrial or nuclear DNA curtail cellular energy production in the respiratory chain, an interconnected group of proteins within mitochondria. This results in a broad variety of damaging effects in potentially any organ.

Although previously considered a rare class of disorders, collectively mitochondrial disease is relatively common, with disease-causing mutations occurring in at least 1 in 4,300 Americans.

'Selfish' Mitochondria Implicated in a Variety of Human Diseases
Mitochondrial disorders are a chameleon-like set of diseases that take many different forms and vary widely from individual to individual.

Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Patients receive supportive therapy, as there are no definitive treatments for these disorders, although clinical trials are under way in several types of mitochondrial disease.

In their analysis, the study team drew on national databases holding records of patients hospitalized in 2012 for mitochondrial disease, representing about 3,200 pediatric and 2,000 adult hospitalizations.

Birth of Healthy Children to Women Carrying Mitochondrial DNA Disease Permitted by PGD
Researcher says pre-implantation genetic diagnosis can give women at risk of passing on a mitochondrial DNA disorder to their offspring a good chance of being able to give birth to an unaffected child

The estimated costs associated with a typical hospitalization were twice as high for a patient with mitochondrial disease than for a patient without mitochondrial disease. In-hospital mortality rates--2.4 percent for children and 3.0 percent for adults--were also disproportionately higher. These mortality rates were six times higher than average in children and three times higher than average in adults.

The researchers also did a separate analysis of all adult and pediatric inpatients in California civilian hospitals over a five-year period, from 2007 through 2011. They found that individuals with at least one hospitalization during that time with mitochondrial disease had a median of 1.1 hospitalizations per year of follow-up. Infants under age two years had the most frequent hospitalizations. Over five years of follow-up, 9.9 percent of patients with at least one hospitalization died while in the hospital.

The study team noted that the actual costs and disease burden may well be higher than their estimates, because hospital discharge records may fail to capture mitochondrial disease, which may be under-diagnosed. "Further studies would benefit patients by investigating better strategies for supportive care, for preventing hospitalizations and for minimizing the burden of hospitalizations on patients and families," said McCormack.

Source-Eurekalert