POLG


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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 ?
Mancuso et al., "Early-onset familial parkinsonism due to POLG mutations," Annals of Neurology, vol.
Several mutations in 12 nuclear genes have been found as responsible for encoding vital proteins to mtDNA maintenance.[28],[29] Among these genes, TK2 , DGUOK , and SUCLA2 genes encode proteins that maintain the mitochondrial dNTP pool, and POLG gene is essential for mtDNA replication.
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Ninety-seven samples from symptomatic individuals suspected of having a mitochondrial disorder but with sequence analyses revealing only 1 mutation or an unclassified novel variant were also evaluated for mtDNA depletion (POLG, 59 blood and 6 muscle samples; DGUOK, 16 blood samples; TK2, 1 muscle and 5 blood samples; MPV17, 6 blood samples; TYMP, 4 blood samples) (see Table S4A in the Data Supplement that accompanies the online version of this article at http://www.clinchem.org/content/vol56/issue7).
Most patients, however, had an mtDNA content within the ref- erence interval, and some of the patients with POLG mutations had an mtDNA content greater than the mean control value (Fig.
Mitochondria-translocated p53 can interact with TFAM and POLG located in the core region of nucleoids and involved in mtDNA maintenance [119].
DNA sequencing has becomes an integral part of clinical diagnoses, and for mitochondrial disorders, in particular, it has become essential because POLG is a major disease locus.
[30] showed FGF21 longevity effects as it helped to maintain mitochondria metabolic homeostasis in polymerase gamma mtDNA mutator (POLG) mice.
By contrast, Fis1 levels were higher in muscle from older PolG animals when compared to age-matched wild-type mice.
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