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

We describe the case of a 44-year-old man who developed sub-acute cerebellar ataxia due to AIDS-related progressive multifocal leucoencephalopathy (PML) caused by JC virus. Following treatment with highly active anti-retroviral therapy (HAART) and cidofovir, he made a marked neurological improvement and is leading an independent life 18 months after the diagnosis of PML. Early recognition of AIDS-related PML and treatment with HAART improves prognosis. Cidofovir, an inhibitor of viral DNA polymerase, appears to have an additive beneficial effect and should be considered especially in patients who fail to improve despite treatment with HAART and in patients who have a high JC virus load in CSF.
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PMID:Prolonged survival in AIDS-related progressive multifocal leucoencephalopathy following anti-retroviral therapy and cidofovir. 1267 81

Early onset ataxia with hypoalbuminemia (AOA1/EAOH) patients begin with ocular motor apraxia and cerebellar ataxia in childhood, and then develop axonal peripheral neuropathy and hypoalbuminemia. We and others identified 'aprataxin (APTX)' as the causative gene for AOA1/EAOH. APTX binds to XRCC1, which is the scaffold protein for BER machinery, and has a HIT-motif, which is supposed to have hydrolase activity on nucleotide. These properties suggest that APTX acts on DNA during single strand DNA break. The 3' -termini of single strand DNA break must be hydroxylated to allow DNA polymerase or ligase to repair; however, ordinary the 3' termini is modified by phosphate or others. These unsuitable ends have to be removed to repair. To investigate whether the APTX works on DNA and remove the unsuitable 3' -end, we incubated recombinant human APTX with variable oligonucleotide. We show that APTX has bidirectional exonuclease activity and 3'-phosphatase activity. These results indicate that APTX might modify the phosphorylated 3' -end in a single strand DNA break. To date several diseases have been identified as caused by an impairment of quality control system of DNA/ RNA. The impairment of quality control system of DNA/RNA is a new pathway for neuronal degeneration.
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PMID:[DNA repair and neurodegeneration]. 1644 79