Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.7.7 (DNA polymerase)
 17,007 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mitochondrial DNA, RNA and protein synthesis in normal and hypothyroid rat liver between the ages of -3 and 21 days were followed. In normal rats DNA polymerase activity and protein synthesis behaved similarly, showing two peaks of activity, one at -3 and the other at 21 days of age. RNA polymerase activity did not change between days -3 and 14, whereas it increased by 21 days of age. Hypothyroidism delayed the developmental pattern of DNA polymerase activity, affected RNA polymerase activity only at 21 days, whereas it inhibited protein synthesis at birth and in the third week of life. The cytochrome aa3 content appeared to be affected by hypothyroidism at birth and at 21 days of age.
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PMID:Mitochondrial DNA, RNA and protein synthesis in normal and hypothyroid developing rat liver. 242 85

Neonatal hypothyroidism in rats resulted in a decrease in the rate of cerebellar cell division and a delay in the time when cell division ceased. Thus, by 35 days total cell number, as measured by DNA content, was normal. The prolongation of cell division was reflected by an elevation of DNA polymerase activity that persisted beyond the time enzyme activity dropped to adult levels in either normal animals or animals equally retarded in their growth by malnutrition. This increase in polymerase activity was associated with a sevenfold increase in tritiated thymidine incorporation into DNA at 21 days of age. These findings support the view that the effects of hypothyroidism on the timing of cell proliferation in the cerebellum are not mediated solely by the well-known decrease in food intake that occurs in hypothyroidism and that might be expected to result in some degree of malnutrition.
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PMID:Cerebellar DNA polymerase activity in hypothyroid and malnourished rats. 620 Oct 63

DNA POLG is the only mitochondrial DNA polymerase and is encoded by nuclear DNA. Depending on the location and inheritance, mutations in POLG1, the catalytic subunit, can cause symptoms including severe infantile epilepsy, metabolic strokes, chronic ataxia, neuropathy, and ophthalmoplegia. We reviewed medical records and conducted extensive interviews with the family of identical twin probands with a mutation in the linker region of DNA polymerase gamma 1 (POLG1) (G517V) and discuss postmortem findings from their grandmother. Both twins developed type I diabetes, adrenal insufficiency, hypothyroidism, and psychiatric problems in addition to neurological difficulties including bilateral basal ganglia infarcts, headaches, and seizures. The maternal grandmother, now deceased, had psychosis and balance problems, and postmortem findings include lacunar infarcts in the basal ganglia (caudate nucleus, putamen, and globus pallidus) and posterior spinal column degeneration. We discuss novel aspects of their presentation and implications for practice.
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PMID:Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease. 1981 14