POLG

(redirected from POLG1)

POLG

A gene on chromosome 15q25 that encodes the catalytic subunit of mitochondrial DNA polymerase involved in replication of mitochondrial DNA.

Molecular pathology
POLG mutations cause progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS) and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE).
References in periodicals archive ?
3] The 140 kDa catalytic protein is translated from the 22 exons of the POLG1 gene on chromosome 15q25, and possesses both polymerase and 3'-5' exonuclease activities.
R964C and E1143G POLG1 single-nucleotide polymorphisms (SNPs) were determined by allelic discrimination real-time polymerase chain reaction (PCR) after a series of numerous optimisation reactions using primers and probes (Table 2).
The amplification of both SNPs was performed in duplicate using 5-20 ng/[micro]L of 3 [micro]L genomic DNA in 25 [micro]L reaction volume comprising 10 [micro]L of 1XTaqman genotyping PCR Master Mix: 3 [micro]L of both POLG1 primers (1 [micro]M), 2 [micro]L of each probe (0.
According to the allelic discrimination real-time PCR amplification assay employed for screening of the polymorphisms, out of the 113 samples of sufficient yield and purity, none appeared to have either the variant allele T for the R964C or variant allele G for the E1143G monogenic polymorphisms, in their POLG1 gene.
We reported in 2009 how his sister Stacey-Jane succumbed to the generative disease Alpers' Syndrome and POLG1.
Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.
The former pupil at Blyth Community College was eventually diagnosed with a cross between the degenerative diseases Alpers' syndrome and POLG1.
She had one strand of Alpers and one strand of POLG1.
BRAVE Stacey-Jane Iveson suffered from a combination of POLG1 and Alpers' Syndrome.
POLG1 is a mitochondrial disease that leads to poor growth and the loss of muscle coordination as well as muscle weakness and learning disabilities.
In POLG1 there is a mutation of the mitochondria that is inherited from DNA passed down from the mother and father.