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

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.

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

2025年3月7日 · POLG studies may reveal how mitochondria affect brain function and mood, leading to new therapies. Age-Related Diseases: As mitochondrial function declines with age, POLG research could identify mechanisms to maintain or restore mitochondrial health, potentially delaying or preventing age-related diseases. Human Ageing:

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.

3 天之前 · 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 ...

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).

POLG is a genetic disorder that comes from issues with the DNA in mitochondria. It shows many symptoms. These can help in early diagnosis and tracking of the disease’s progress.