INT13021

Context Info Confidence 0.49 First Reported 1991 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 7 Total Number 7 Disease Relevance 1.61 Pain Relevance 2.42

transmembrane transport (SCN4A)

Anatomy Link Frequency nerve 1 skeletal muscle 1 SCN4A (Homo sapiens)

Pain Link Frequency Relevance Heat Nav1.1 8 100.00 nav1.3 7 100.00 Nav1.2 5 100.00 tetrodotoxin 19 99.54 sodium channel 17 98.60 Nav1.6 7 98.16 Nav1.7 7 96.80 nav1.8 9 81.76 Nav1.9 4 78.96 halothane 2 75.00

Disease Link Frequency Relevance Heat Paralysis 8 100.00 Disease 3 97.72 Lung Cancer 2 89.84 Apoptosis 2 78.64 Hyperkalemic Periodic Paralysis 1 75.00 Malignant Hyperthermia 3 73.00 Contracture 1 65.12 Pain 4 64.88 Burning Mouth Syndrome 3 50.00 Sperm Disorder 15 27.44

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Reverse transcriptase-polymerase chain reaction (RT-PCR) and real-time PCR analysis of MPM cells transcripts showed significant expression of the mRNAs encoding for Na(V)1.2, and Na(V)1.6, and Na(V)1.7 (and less so for Na(V)1.3, Na(V)1.4, and Na(V)1.5) main voltage-gated sodium channel (VGSC) alpha-subunit(s).

Positive_regulation (for) of Na(V)1.4 associated with sodium channel

1) Confidence 0.49 Published 2006 Journal Int. J. Biochem. Cell Biol. Section Abstract Doc Link 16458569 Disease Relevance 0.30 Pain Relevance 0.44

subunits are inhibited by TTX in the nanomolar range and include SCN1A (also known as Nav1.1), SCN2A (also known as Nav1.2), SCN3A (also known as Nav1.3), SCN4A (also known as Nav1.4), SCN8A (also known as Nav1.6), and SCN9A (also known as Nav1.7).

Positive_regulation (include) of SCN4A associated with nav1.3, tetrodotoxin, nav1.1, nav1.2, nav1.7 and nav1.6

2) Confidence 0.48 Published 2009 Journal Reprod Biol Endocrinol Section Body Doc Link PMC2724540 Disease Relevance 0 Pain Relevance 1.30

Genetic analysis of nine HYPP families has shown tight linkage between the adult skeletal muscle sodium channel alpha-subunit gene on chromosome 17q and the disease (lod score, z = 24; recombination frequency 0 = 0), strongly suggesting that mutations of the alpha-subunit gene cause HYPP.

Positive_regulation (cause) of HYPP in skeletal muscle associated with sodium channel, disease and paralysis

3) Confidence 0.44 Published 1991 Journal Nature Section Abstract Doc Link 1659668 Disease Relevance 0.93 Pain Relevance 0.18

When expressed as a ratio of the neurofilament % area, there was a strong trend for an increase of Na v 1.7 in the painful pulp group.

Positive_regulation (increase) of Na v 1.7

4) Confidence 0.42 Published 2010 Journal BMC Neurosci Section Body Doc Link 20529324 Disease Relevance 0.05 Pain Relevance 0

Image analysis showed a trend for an increase of the Na v 1.7 immunoreactive % area in the painful pulp group, but this was not statistically significant.

Positive_regulation (increase) of Na v 1.7

5) Confidence 0.42 Published 2010 Journal BMC Neurosci Section Body Doc Link 20529324 Disease Relevance 0.06 Pain Relevance 0

Approximately 70% of currents in fatty acid-treated cells were TTX sensitive, indicating activation of the adult SkM1 isoform of the Na+ channel.

Positive_regulation (activation) of SkM1 associated with tetrodotoxin

6) Confidence 0.36 Published 1996 Journal Am. J. Physiol. Section Abstract Doc Link 8760064 Disease Relevance 0.21 Pain Relevance 0.50

RESULTS: There was a significantly increased visual intensity score for Na v 1.7 in nerve fibres in the painful dental pulp specimens, compared to controls.

Positive_regulation (increased) of Na v 1.7 in nerve

7) Confidence 0.31 Published 2010 Journal BMC Neurosci Section Body Doc Link 20529324 Disease Relevance 0.06 Pain Relevance 0

General Comments

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