Notably, in the mutator mouse model, characterized by the accumulation of multiple deletions in the mtDNA due to a proofreading-deficient form of
POLG (the polymerase responsible for mtDNA replication), neuroprotective compensatory mechanisms at the mitochondrial level were observed [66].
We also analyzed four minor patients (0.5-4.0 years) with MDS carrying two mutations in one of four nuclear genes that cause mtDNA depletion (
POLG , DGUOK , TK2 , and SUCLA2 ).
DNA polymerase gamma and mitochondrial disease: Understanding the consequence of
POLG mutations.
Polymerase gamma gene
POLG determines the risk of sodium valproate-induced liver toxicity.
They were not told about Alpers syndrome and its relationship to the
POLG gene until after their third child was born.
Citation: "Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in
Polg mutator mice;" Kati Ahlqvist, Anu Suomalainen et al.; Celt Metabolism, Volume 15, Issue 1,4 January 2012, Pages 100-109
Today, Polyus Gold International's GDRs will start trading on the LSE under the ticker
POLG LI.
Patients with autosomal recessive mutations in MPV17 predominantly present with hepatic failure during infancy (5), whereas individuals with
POLG mutations can present with MDDS at any age, primarily with encephalopathy and, to a lesser extent, hepatic impairment (6).
According to Copeland's research, more than 85% of spontaneous mitochondrial DNA mutations can be traced back to errors in the
POLG gene that encodes pol [gamma].