BioCentury
ARTICLE | Targets & Mechanisms

Mitochondrial gene therapy

May 10, 2012 7:00 AM UTC

A University of Miami team has used mitochondrion-targeted gene therapy to restore functional NADH dehydrogenase subunit 4 levels in Leber's hereditary optical neuropathy.1 Next steps include optimizing the approach to cover several variants of the disease and determining the therapy's potential advantages over pharmacological strategies in development.

Leber's hereditary optical neuropathy (LHON) affects about 1 in 30,000-50,000 people and manifests as sudden vision loss in early adulthood. Unlike in most hereditary diseases, the defective genes behind LHON are encoded by DNA in the mitochondria, not in the nucleus. The mitochondria, cellular subcompartments that generate energy for the cell, retain a small circular genome encoding a set of key proteins that cannot be correctly manufactured elsewhere in the cell...