INT284359

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Context Info
Confidence 0.37
First Reported 2009
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 4
Total Number 7
Disease Relevance 6.62
Pain Relevance 0.99

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

cytosol (Mvk) mRNA binding (Mvk) peroxisome (Mvk)
kinase activity (Mvk) cytoplasm (Mvk)
Anatomy Link Frequency
fibroblasts 2
Mvk (Mus musculus)
Pain Link Frequency Relevance Heat
abdominal pain 7 95.28 Very High Very High Very High
Inflammation 59 91.04 High High
Arthritis 7 89.56 High High
headache 4 88.04 High High
Etanercept 1 77.68 Quite High
corticosteroid 3 72.28 Quite High
Pain 4 29.76 Quite Low
Osteoarthritis 2 23.44 Low Low
Angina 1 16.44 Low Low
ischemia 10 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Mevalonate Kinase Deficiency 232 99.48 Very High Very High Very High
Dementia 4 98.24 Very High Very High Very High
Frailty 4 97.08 Very High Very High Very High
Ataxia 4 96.28 Very High Very High Very High
Abdominal Pain 7 95.28 Very High Very High Very High
Splenomegaly 1 94.48 High High
Lymphadenopathy 2 93.92 High High
Fever 34 93.24 High High
Syndrome 18 91.68 High High
INFLAMMATION 58 91.04 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Despite the markedly decreased MK enzyme activity in fibroblasts from MKD patients, the de novo isoprenoid biosynthesis can be rather normal when these fibroblasts are cultured under normal conditions (Gibson et al 1990; Hoffmann et al 1997; Houten et al 2003b).
Negative_regulation (decreased) of MK enzyme in fibroblasts associated with mevalonate kinase deficiency
1) Confidence 0.37 Published 2010 Journal J Inherit Metab Dis Section Body Doc Link PMC2946549 Disease Relevance 1.61 Pain Relevance 0.22
Previously, we showed that under standard culturing conditions, fibroblasts from MKD patients have similar levels of geranylgeranylated RhoA in their membranes, as observed in control cells, despite MK deficiency.
Negative_regulation (deficiency) of MK in fibroblasts associated with mevalonate kinase deficiency
2) Confidence 0.27 Published 2010 Journal J Inherit Metab Dis Section Body Doc Link PMC2946549 Disease Relevance 0.38 Pain Relevance 0
MKD is due to mutations in the MVK gene, resulting in decreased activities of mevalonate kinase (MK; EC 2.7.1.36), the first enzyme following the highly regulated 3-hydroxy-3-methylgluaryl (HMG-CoA reductase) in the isoprenoid biosynthesis pathway (Houten et al 2003a; Waterham 2006).
Negative_regulation (decreased) of mevalonate kinase associated with mevalonate kinase deficiency
3) Confidence 0.27 Published 2010 Journal J Inherit Metab Dis Section Body Doc Link PMC2946549 Disease Relevance 1.09 Pain Relevance 0.17
Although the depressed MK enzyme activity in MKD in principle affects the biosynthesis of all isoprenoids, there are strong indications that, in particular, a temporary shortage or dysfunction of one or more geranylgeranylated proteins is associated with onset of fever episodes (Frenkel et al 2002; Houten et al 2002; Houten et al 2003b; Mandey et al 2006).
Negative_regulation (depressed) of MK enzyme associated with mevalonate kinase deficiency and fever
4) Confidence 0.27 Published 2010 Journal J Inherit Metab Dis Section Body Doc Link PMC2946549 Disease Relevance 1.20 Pain Relevance 0.15
This autosomal recessive disorder is caused by homozygous mutations in the gene (MVK) resulting in decreased mevalonate kinase activity, with effects on the isoprenoid pathway of cholesterol biosynthesis [19•].
Negative_regulation (decreased) of mevalonate kinase
5) Confidence 0.22 Published 2010 Journal Curr Allergy Asthma Rep Section Body Doc Link PMC2892083 Disease Relevance 2.22 Pain Relevance 0.45
The main mechanism by which nitrogen bisphosphonates alter cellular function is through inhibition of various enzymes of the mevalonate pathway of isoprenoid lipid synthesis [31].
Negative_regulation (inhibition) of of the mevalonate pathway
6) Confidence 0.04 Published 2009 Journal The Open Orthopaedics Journal Section Body Doc Link PMC2761671 Disease Relevance 0 Pain Relevance 0
Thus all media were supplemented with 100ng/ml IGF-I (Peprotech Inc., Rocky Hill, NJ, USA) to ensure activation of the mevalonate pathway and expression of VEGF.
Negative_regulation (ensure) of of the mevalonate pathway
7) Confidence 0.04 Published 2009 Journal The Open Orthopaedics Journal Section Body Doc Link PMC2761671 Disease Relevance 0.12 Pain Relevance 0

General Comments

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