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.

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 include Alpers ...

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 encoded by this gene, is a member of the DNA polymerase type-A family.It is a mitochondrion nucleoid with an Mg2+ cofactor and 15 turns, 52 beta strands, and 39 alpha helixes. [9] [10] POLG contains a polyglutamine ...

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 and investigators from Europe, the USA, and Australia attended to discuss harmonizing clinical research efforts. The workshop aimed to create a unified natural history study to support drug ...

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 website. ...

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.

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).

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 spectrum, which presents within ...

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. The disease ...