INT78203

Context Info Confidence 0.63 First Reported 1998 Last Reported 2010 Negated 1 Speculated 0 Reported most in Body Documents 12 Total Number 14 Disease Relevance 7.49 Pain Relevance 3.58

cell differentiation (PMP22) plasma membrane (PMP22)

Anatomy Link Frequency Schwann cells 3 sciatic nerve 2 leukocyte 1 nervous system 1 PMP22 (Homo sapiens)

Pain Link Frequency Relevance Heat Sciatic nerve 11 100.00 Neuritis 8 99.92 carpal tunnel syndrome 115 99.80 gABA 81 99.56 agonist 10 99.26 antagonist 11 96.80 c fibre 42 95.84 Inflammation 17 92.68 dorsal root ganglion 13 90.00 Chronic pancreatitis 5 87.48

Disease Link Frequency Relevance Heat Syndrome 230 100.00 Disease 14 100.00 Experimental Autoimmune Neuritis 8 99.92 Carpal Tunnel Syndrome 118 99.80 Berylliosis 1 99.46 Malignant Neoplastic Disease 2 99.16 Aging 6 98.80 Dejerine-sottas Disease 2 98.76 Cancer 4 96.72 Neuropathic Pain 23 96.20

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

PMP22 cDNA produced by the reverse transcriptase-polymerase chain reaction from rat sciatic nerve was expressed in Escherichia coli as a fusion protein with glutathione-S-transferase (GST).

Gene_expression (produced) of PMP22 in sciatic nerve associated with sciatic nerve

1) Confidence 0.63 Published 1998 Journal Brain Section Abstract Doc Link 9798745 Disease Relevance 0.70 Pain Relevance 0.45

PMP22 cDNA produced by the reverse transcriptase-polymerase chain reaction from rat sciatic nerve was expressed in Escherichia coli as a fusion protein with glutathione-S-transferase (GST).

Gene_expression (expressed) of PMP22 in sciatic nerve associated with sciatic nerve

2) Confidence 0.63 Published 1998 Journal Brain Section Abstract Doc Link 9798745 Disease Relevance 0.71 Pain Relevance 0.48

Indeed, the first clinical signs of CMT1A were present in this patient.

Gene_expression (present) of CMT1A

3) Confidence 0.62 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.26 Pain Relevance 0

2.9 Mb in size and included the PMP22 gene known to cause CMT1A disease with dosage-specific overexpression of PMP22 (Patel et al. 1992).

Gene_expression (overexpression) of PMP22 associated with disease

4) Confidence 0.61 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.26 Pain Relevance 0

2.9 Mb in size and included the PMP22 gene known to cause CMT1A disease with dosage-specific overexpression of PMP22 (Patel et al. 1992).

Gene_expression (overexpression) of PMP22 associated with disease

5) Confidence 0.61 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.21 Pain Relevance 0

Expression analysis of PMP22/Gas3 in premalignant and malignant pancreatic lesions.

Gene_expression (Expression) of Gas3 associated with malignant neoplastic disease

6) Confidence 0.58 Published 2005 Journal J. Histochem. Cytochem. Section Title Doc Link 15995147 Disease Relevance 1.26 Pain Relevance 0.38

The scenarios involve glutathione-S-transferase theta 1 (GSTT1) and hematopoietic cancer in hospital workers, human leukocyte antigen coding for glutamic acid in the 69th position (HLA DPB1(E69)) and chronic beryllium disease in beryllium workers, and peripheral myelin protein 22 (PMP22) deletion and carpal tunnel syndrome in railroad track workers.

Gene_expression (deletion) of peripheral myelin protein 22 in leukocyte associated with berylliosis, cancer and carpal tunnel syndrome

7) Confidence 0.55 Published 2004 Journal Scand J Work Environ Health Section Abstract Doc Link 15018031 Disease Relevance 0.30 Pain Relevance 0.10

This resulted in the insertion of the MDLS region into the middle SMS-REP/LCR17pB block, loss of the subtelomeric region 17p13.3, and part of 17p12, and duplication of the CMT1A and SMS regions.

Gene_expression (duplication) of CMT1A associated with syndrome

8) Confidence 0.53 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.30 Pain Relevance 0

GABA-A involvement in the expression of PMP22 is confirmed by the finding that in cultured rat Schwann cells a specific GABA antagonist such as bicuculline completely abolishes the stimulatory effect exerted by 5?

Gene_expression (expression) of PMP22 in Schwann cells associated with gaba and antagonist

9) Confidence 0.53 Published 2010 Journal J Brachial Plex Peripher Nerve Inj Section Body Doc Link PMC2873263 Disease Relevance 0.56 Pain Relevance 0.60

Genetic studies including SCA 1, 2, 3, 6, DRPLA, CMT1A, CMTX 1 were all negative.

Neg (negative) Gene_expression (negative) of CMT1A

10) Confidence 0.42 Published 1999 Journal Rinsho Shinkeigaku Section Abstract Doc Link 10614159 Disease Relevance 0.79 Pain Relevance 0.25

Indeed aging nervous system, that is associated with a reduction in the synthesis of P0 and PMP22, appears to remain sensitive to some of progesterone's beneficial effects [34,35].

Gene_expression (synthesis) of PMP22 in nervous system associated with aging

11) Confidence 0.36 Published 2010 Journal J Brachial Plex Peripher Nerve Inj Section Body Doc Link PMC2873263 Disease Relevance 0.68 Pain Relevance 0.21

Progesterone modulate the expression of key transcription factors for Schwann cell function, regulate Schwann cell proliferation and promote the expression of myelin proteins involved in the maintenance of myelin multilamellar structure, such as myelin protein zero and peripheral myelin protein 22.

Gene_expression (expression) of myelin protein 22 in Schwann cell

12) Confidence 0.36 Published 2010 Journal J Brachial Plex Peripher Nerve Inj Section Body Doc Link PMC2873263 Disease Relevance 0.54 Pain Relevance 0.28

An apparent underestimation of the full complexity of CCRs is well demonstrated in patient 1, in whom a complex karyotype was identified, including an inverted insertion of the MDLS region into the middle SMS-REP/LCR17pB block, two microdeletions (terminal and interstitial in 17p12) and a microduplication involving both SMS and CMT1A chromosome regions.

Gene_expression (microduplication) of CMT1A associated with syndrome

13) Confidence 0.23 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.40 Pain Relevance 0

However both GABAA and GABAB receptors have been immunohistochemically identified in cultured Schwann cells from rat [30] and segments of rat sciatic nerve [31] and their activation by GABA agonists has been suggested to influence the expression of myelin proteins P0 and PMP22 [30].

Gene_expression (expression) of PMP22 in Schwann cells associated with gaba, agonist and sciatic nerve

14) Confidence 0.23 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2808338 Disease Relevance 0.51 Pain Relevance 0.83

General Comments

This test has worked.