POLG

Description

The POLG gene, located on chromosome 15, provides the blueprint for the enzyme DNA polymerase gamma (POLG). This enzyme plays a crucial role in replicating and repairing mitochondrial DNA (mtDNA), the genetic material found within the mitochondria, the powerhouses of our cells. Mitochondria are vital for energy production, and proper function relies on the integrity of mtDNA. POLG mutations can disrupt these processes, leading to a spectrum of debilitating disorders.

Associated Diseases

• Alpers-Huttenlocher Syndrome
• Progressive External Ophthalmoplegia (PEO)
• Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS)
• Leigh Syndrome
• Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
• NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa)
• Kearns-Sayre Syndrome

Did you know?

POLG mutations are often inherited from a parent, but they can also occur spontaneously.