Gene Therapy Prevents Blindness In An Animal Model Of Mitochondrial Dysfunction

ScienceDaily (Sep. 8, 2008) — Scientists have created an animal model suitable for testing and validating gene therapies for treatment of a common mitochondrial dysfunction that causes loss of vision.

The research, published by Cell Press in the September issue of the American Journal of Human Genetics, describes an innovation that represents a significant advance toward development of the first treatment for one of the many devastating disorders caused by mitochondrial disruption.

The most common forms of metabolic disorders are due to mutations in mitochondrial DNA (mtDNA). Mitochondria are the cell's energy producers, and mitochondrial diseases involve tissues with high energy needs, such as retina, brain, heart, muscle, liver, and endocrine systems. Although 300 mtDNA alterations have been identified as the genetic cause of mitochondrial diseases, there are not, as of yet, any effective treatments available. "Despite progress made in identification of their molecular mechanisms, little has been done regarding therapy," says senior author Dr. Marisol Corral-Debrinski from the Pierre and Marie Curie University in Paris.

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