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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POLG LI.
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.