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.
We expect Polyus Gold International's GDRs to start trading today on the LSE under the ticker
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.
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.