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 …

2 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 …

POLG is located on the q arm of chromosome 15 in position 26.1 and has 23 exons.The POLG gene produces a 140 kDa protein composed of 1239 amino acids. [7] [8] POLG, the protein …

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

2025年3月7日 · POLG Cohort Workshop: The Foundation hosted a two-day POLG Cohort Workshop before the EuroMit Conference in Bologna, Italy. 17 POLG patient cohort leaders …

6 天之前 · POLG is a “genetic mitochondrial disorder that robs the body’s cells of energy, in turn causing progressive multiple organ dysfunction and failure,” according to the foundation’s …

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 …

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 …

2018年11月19日 · The six leading disorders caused by POLG mutations are Alpers–Huttenlocher syndrome, which is one of the most severe phenotypes; childhood myocerebrohepatopathy …

5 天之前 · POLG disease is a mitochondrial disorder caused by inherited mutations in the POLG gene—which is critical to the processes of replicating cells’ genetic material and DNA repair. …