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 ?
Most of these samples had been screened for mutations in the POLG, DGUOK, MPV17, and TK2 genes and were negative for deleterious mutations.
The value of muscle tissue for diagnosing MDDS was confirmed by a prospective analysis in which POLG mutations were identified in 2 of 9 muscle samples with mtDNA depletion (i.
A severe reduction in mtDNA content was found in liver samples from patients with the hepatocerebral form of MDDS (MPV17, DGUOK, and POLG mutations; Fig.
Indeed, some of the blood samples from patients with POLG mutations had an mtDNA content greater than that of the age-matched pooled control.
Conversely, despite the lack of sensitivity of blood, its specificity was demonstrated by the detection of pathogenic POLG mutations in 2 of 8 patients with mtDNA depletion in blood samples.
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.