Ask about this productRelated genes to: Polg Blocking Peptide
- Gene:
- POLG NIH gene
- Name:
- DNA polymerase gamma, catalytic subunit
- Previous symbol:
- -
- Synonyms:
- POLG1, POLGA
- Chromosome:
- 15q26.1
- Locus Type:
- gene with protein product
- Date approved:
- 1992-02-06
- Date modifiied:
- 2019-04-23
Related products to: Polg Blocking Peptide
Related articles to: Polg Blocking Peptide
- Bipolar disorder is a mental disorder characterized by recurrent episodes of mania/hypomania and depression, with a strong genetic contribution and substantial functional burden. Recent genomic studies implicate multiple risk variants converging on intracellular calcium (Ca) signaling and synaptic function, while neurons derived from induced pluripotent stem cells of patients with bipolar disorder demonstrate altered neuronal excitability and lithium-responsive phenotypes. Building on early neuroimaging and postmortem observations, accumulating evidence supports the mitochondrial dysfunction hypothesis, which proposes that impaired mitochondrial Ca buffering disrupts neuronal Ca homeostasis and contributes to mood instability. Diverse findings align with this framework: altered brain energy metabolism, increased mitochondrial DNA (mtDNA) deletions, elevated lactate, reduced mitochondrial gene expression and complex I proteins, enrichment of deleterious de novo and mosaic variants in Ca signaling- and mitochondrial/endoplasmic reticulum-related genes, and a higher prevalence of the MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes)-associated m.3243A>G mutation in individuals with bipolar disorder. Animal models further strengthen causal inference. Neuron-specific knockout mice exhibit reduced mitochondrial Ca uptake and serotonergic hyperexcitability, while mice with neuron-specific mutant accumulate mtDNA deletions and show recurrent depression-like episodes responsive to lithium and switch-like manic behaviors following treatment with a tricyclic antidepressant, indicating construct, face, and predictive validity. To identify the critical brain substrate, mtDNA deletions were mapped and found to accumulate most prominently in the paraventricular thalamic nucleus (PVT), a serotonergic-recipient hub projecting to limbic circuits involved in emotional salience. Human postmortem single-nucleus analyses reveal marked reductions of PVT neurons and prominent gene expression changes in the PVT, including enrichment of GWAS (genome-wide association study) signals among downregulated genes, as well as neuropathological alterations such as granulovacuolar degeneration in the PVT in late-onset cases. These convergent data suggest that genetically driven Ca dysregulation and mitochondrial vulnerability promote circuit-level dysfunction-particularly within the serotonin-PVT-limbic pathway-leading to dysregulated emotion-cognition balance and mood swings. - Source: PubMed
Publication date: 2026/04/17
Kato Tadafumi - This study aimed to determine whether adding niacin to the oocyte maturation medium could enhance fertilization rate, mitochondrial distribution, and the expression of mitochondrial function-related genes in fresh and vitrified bovine oocytes. In Experiment 1, cumulus-oocyte complexes (COCs) were allocated into two groups for in vitro maturation: a control group and niacin-supplemented (niacin group) oocytes. In Experiment 2, COCs were matured under the same conditions as in Experiment 1 and then vitrified, forming two additional groups: control vitrified (CV) and niacin-supplemented vitrified (NV) groups. Fertilization rate, mitochondrial distribution, and gene expression were examined in the matured oocytes in both experiments. In Experiment 1, fertilization rate and gene expression were analyzed using a paired -test. In Experiment 2, fertilization rate and gene expression were analyzed by ANOVA with LSD post hoc test. Mitochondrial distribution patterns were assessed by Pearson's chi-square test in both experiments. In Experiment 1, niacin supplementation significantly improved fertilization rate and upregulated , , and expression compared with the control group ( ≤ 0.05). In Experiment 2, although vitrification reduced fertilization rate overall, NV oocytes showed a tendency toward higher fertilization rate compared with the CV group ( = 0.08). Mitochondrial distribution in the CV group shifted toward a peripheral pattern, whereas niacin supplementation resulted in a more normal distribution. Vitrification decreased the expression of , , and ( ≤ 0.05) in the oocytes, but and levels in the NV group were significantly higher than those in the CV group ( ≤ 0.05). In conclusion, niacin supplementation during in vitro maturation of bovine oocytes enhances fertilization competence by supporting mitochondrial distribution and mitochondrial gene expression, particularly under vitrification stress. - Source: PubMed
Publication date: 2026/05/29
Azari MehdiKafi MojtabaEshghi DavoudSalehi AliFarahmand Fatemeh - Pathogenic POLG variants produce an age-related progressive multi-system mitochondrial disorder, with neurologic manifestations that include focal onset seizures, stroke-like episodes, cerebellar ataxia, sensory neuronopathy, complex ophthalmoplegia and myopathy. Focal onset status epilepticus or epilepsia partialis continua (EPC) frequently occurs in patients with paediatric and early adulthood onset disease. - Source: PubMed
Publication date: 2026/05/09
Bangel Katrin ANg YiLim AlbertThomas Naomi J PJaiser Stephan RLai H MingGorman Gráinne SThomas Rhys RTurnbull Douglass MRamesh VenkateswaranSchaefer Andrew MMcFarland RobertBaker Mark R - POLG-related disorders are a group of mitochondrial diseases caused by variants in the gene, which is essential for mitochondrial DNA replication and repair. These disorders encompass a wide spectrum of clinical manifestations, ranging from severe, early-onset conditions to milder, adult-onset syndromes. - Source: PubMed
Publication date: 2026/05/25
Al Mutairi FuadJoueidi FaisalAl Mutairi Ziyad AAlshalan MahaEyaid WafaaMushiba Aziza MAlGhamdi MalakTabarki BrahimAlGhamdi AbdulazizAlTassan RuqaiahAlzaidan HamadSharif AbubakarAldhalaan HeshamUmair MuhammadAlfadhel Majid - Cholestasis has diverse causes, with genetic factors playing a key role. Diagnosis is challenging due to varied presentations and overlapping genetic conditions. Next-generation sequencing cholestasis gene panels enable faster, more accurate identification of genetic causes. This study summarizes results from more than 10,000 tests, highlighting their clinical utility. - Source: PubMed
Publication date: 2026/05/18
Hoskins Brett JPramparo TizianoGough EthanPonte AmyDutta RanaKarnsakul Wikrom