Genetic Mutations Linked to Mitochondrial Diseases Identified

According to a story from MedicalXpress, a group of international scientists spearheaded by researchers at the University of Colorado have managed to identify certain genetic mutations that are connected to mitochondrial diseases. While it has long been understood that mitochondrial diseases must have some sort of genetic basis, the new research helps clarify some of the details, such as which genes are affected.

About Mitochondrial Diseases

Mitochondrial diseases are a group of genetic disorders that causes the mitochondria not to function properly. The mitochondria are an essential organelle that is found in most types of cells in the body, with red blood cells being the only exception. They are responsible for generating energy for the cell. Mitochondrial diseases are usually caused by mutations of the mitochondrial DNA or the nuclear DNA. Symptoms tend to be the worst when the issue affects cells that use a lot of energy, such as the muscles or parts of the brain. These symptoms affect many aspects of bodily function and include poor growth, poor muscle coordination, dementia, neurological issues, muscle weakness, breathing disorders, vision problems, digestive disorders, hearing problems, disease of the kidney, liver, and heart, and learning disabilities. Treatment options are limited in number and in their effectiveness. To learn more about mitochondrial diseases, click here.

About The Study

The researchers focused on the plight of five families whose newborns had symptoms that suggested mitochondrial diseases, such as acidic blood and cardiomyopathy. These cases were all examples of problems appearing very early in life or even before birth, with none of the affected children surviving beyond seven months. In the past, the study of mitochondrial diseases has been limited by genetic variances and the complicated biochemistry that is present with these illnesses.

However, the researchers were able to identify certain genetic characteristics that all of the affected children shared, including genetic mutations that led to the early onset mitochondrial disease that killed the children. The scientists were also able to identify a certain nutritional compound that could help improve cellular function and may work as a new therapeutic target.

The results of the study were published in the scientific journal Nature Communications. The original study can be found here.


Share this post

Close Menu