Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.7.6 (RNA polymerase)
 34,946 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We investigated the quantitative expression of the human glucose-6-phosphate translocase gene (G6PT1) and its splicing variants in human tissues. The G6PT1 gene was strongly expressed in liver, kidney and haematopoietic progenitor cells, which might explain major clinical symptoms such as hepatomegaly, nephromegaly and neutropenia in glycogen storage diseases type Ib. Reverse transcriptase-mediated PCR amplification of G6PT1 cDNA revealed several splicing variants in tissue-specific manners. The brain-specific isoform, which has an additional 22 amino acids between exons 6 and 8, was also identified in heart and skeletal muscle. A new splicing variant, although less prominent in quantity and lacking polypeptide loops corresponding to exons 2 and 3, may have a distinct substrate affinity or specificity in leukocytes and haematopoietic progenitors. In conclusion, the G6PT1 gene was expressed in various tissues, and alternative splicing variants exist in tissue-specific manners.
 ...
PMID:Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells. 1103 33

Nucleoside analogue reverse-transcriptase inhibitors (NRTIs) especially stavudine, used for the treatment of HIV infection have been rarely associated with lactic acidosis syndrome (LAS) and severe neuromuscular weakness mimicking Guillain Barre syndrome. A 36-year-old man presented with a one-week history of nausea, vomiting, epigastric pain, dyspnea associated with progressive muscle weakness and numbness in glove and stocking pattern. He had symptomatic HIV infection, diagnosed 2 years before the admission and was treated with GPOvir (lamivudine, stavudine and nevirapine). Physical examination revealed afebrile dyspnic drowsy man with crepitation in both lungs and hepatomegaly. Neurological examination showed areflexic symmetrical weakness of both extremities and decreased pin-prick sensation in glove and stocking pattern as well as loss of vibration and touch sensation in both hands and feet. He developed cardiopulmonary arrest and was intubated. Investigations revealed severe lactic acidosis (lactic acid = 21.1 mg/dl). Electrophysiological studies revealed severe sensorimotor axonopathy predominantly involved the lower extremities. Stavudine was discontinued. Severe LAS dramatically improved and polyneuropathy gradually recovered with symptomatic as well as supportive interventions. Monitoring of LAS and neuromuscular weakness is advocated in HIV patient who receive stavudine therapy. Immediate discontinuation of the medication after detection of these complications may prevent this fatal complications.
 ...
PMID:Lactic acidosis associated with severe neuromuscular weakness and stavudine therapy. 2159 38