Where is POLG gene located?
The POLG gene is located on the long arm of chromosome 15, and encodes polymerase γ. Polymerase γ is the sole polymerase for mitochondrial DNA replication.
What is POLG real name?
POLG (DNA Polymerase Gamma, Catalytic Subunit) is a Protein Coding gene.
Is POLG mutation fatal?
Alpers syndrome appears to be the most common autosomal recessive disease caused by mutations in the POLG gene. This early-onset fatal disease is characterized by intractable seizures, hepatic failure, and global neurological deterioration (Naviaux and Nguyen, 2004).
What is a POLG gene?
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations in POLG can cause early childhood mitochondrial DNA (mtDNA) depletion syndromes or later-onset syndromes arising from mtDNA deletions.
How old do people with mitochondrial disease live?
A small study in children with mitochondrial disease examined the patient records of 221 children with mitochondrial disease. Of these, 14% died three to nine years after diagnosis. Five patients lived less than three years, and three patients lived longer than nine years.
How common is POLG mutation?
POLG mutations are relatively rare, with an estimated carrier frequency of 1/100 individuals in the Western world [11]. Most are recessive, and symptoms typically manifest only in compound heterozygous patients.
How common is POLG?
What causes Alpers disease?
It is an autosomal recessive disease caused by mutation in the gene for the mitochondrial DNA polymerase POLG. The disease occurs in about one in 100,000 persons. Most individuals with Alpers’ disease do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms.
What is the lifespan for LS sufferers?
Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure.
Which is the active part of the POLG gene?
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.
How are POLG mutations related to mitochondrial disorders?
Mutations in POLG can cause early childhood mitochondrial DNA (mtDNA) depletion syndromes or later-onset syndromes arising from mtDNA deletions. POLG mutations are the most common cause of inherited mitochondrial disorders, with as many as 2% of the population carrying these mutations.
Is the POLG gene associated with ophthalmoplegia?
Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 2001 Jul;28 (3):211-2.
When do POLG-related disorders usually take place?
POLG-related disorders comprise a continuum of overlapping phenotypes with onset from infancy to late adulthood.