PolG disease is a genetic disorder that robs the body’s cells of energy, in turn causing progressive multiple organ dysfunction and failure. One might compare it to having a faulty battery that never fully recharges and is in a constant state of depletion.

DNA polymerase subunit gamma (POLG or POLG1) is an enzyme that in humans is encoded by the POLG gene. [5] Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase.

POLG mutations are the most common cause of inherited mitochondrial disorders, with as many as 2% of the population carrying POLG mutations. POLG -related disorders comprise a continuum of overlapping phenotypes with onset from infancy to late adulthood.

The POLG Foundation supports and accelerates research to find effective treatments and a cure for PolG-related mitochondrial disorders.

2025年3月10日 · Robert explained that POLG disease is 'a genetic mitochondrial disorder that robs the body’s cells of energy', which, in turn, causes 'progressive multiple organ (brain, nerves, liver, intestines, muscles, swallowing and ocular function, etc.) dysfunction and failure.'

This Review describes the clinical features, pathophysiology, natural history and treatment of POLG-related disorders, focusing particularly on the neurological manifestations of these conditions.

2010年3月16日 · POLG-related disorders comprise a continuum of broad and overlapping phenotypes that range from fatal neonatal-onset disease to mild late-onset disease with myopathy and progressive external ophthalmoplegia (PEO).

2025年3月11日 · PolG disease is genetic condition that depletes the body’s cells of energy. This in turn causes progressive multiple organ dysfunction and failure.

2025年3月13日 · POLG mutations are the most common cause of inherited mitochondrial disorders, with around 300 mutations in POLG known to cause disease. Examples of POLG-related diseases include Alpers ...

The POLG gene provides instructions for making the active piece, called the alpha subunit, of a protein called polymerase gamma (pol γ). To be most effective, the alpha subunit attaches to two copies of another protein called the beta subunit to form pol γ.