Researchers Make Progress In Search For Mitochondrial Disease Treatment

A group of scientists said they have taken the initial steps toward finding a treatment for people born with mitochondrial diseases.

Mitochondrial disease is a group of genetic illness that can cause miscarriages and stillbirths. One in every 6,500 babies is born with this condition. Some of the affected children die in infancy while some get progressively ill, suffering from a range of health problems such as muscle weakness, heart failure and blindness.

Now, researchers have shown that healthy cells can be produced in the lab from patients suffering from the disease, and future treatments can potentially use these healthy tissues for repairing damaged organs.

Researchers from the Oregon Health and Science University employed two ways to produce healthy tissue samples from patients with the genetic illness.

The first technique was based on the fact that there's a mixture of healthy and defective mitochondria out of hundreds of these organelles in each cell. By taking and growing a number of skin cell samples, the researchers were able to find a range of cells with zero to 100 percent healthy mitochondria.

The second technique used the same method that was used to produce the cloned sheep Dolly. The method involved placing the nucleus, which contains core genetic information, inside the egg of a healthy woman. Electricity was then used so the egg developed into a healthy embryo.

The two methods produced stem cells, which can be transformed into other types of cells.

Study researcher Shoukhrat Mitalipov said that there's a considerable number of research on turning stem cells into the desired type of tissue. The next step would be to harvest and transplant these into a patient so these will be implanted, integrated and function well. Mitalipov said that a cure for the disease is on the horizon, albeit the researchers acknowledged that much work still needs to be done.

"We demonstrate complementary strategies for generating genetically and functionally corrected PSCs for patients with mtDNA disease," the researchers reported in their study, which was published in the journal Nature on July 15. "Generation of genetically corrected PSCs from patients with mtDNA disease enables the transition from palliative care to therapeutic interventions based on regenerative medicine."

Mitochondria are often called the powerhouse of the cells because they convert food into usable energy that power cell functions. Mitochondrial disease is caused by defective mitochondria that are passed down from a child's mother.

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