INT138715

Context Info Confidence 0.66 First Reported 2006 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 12 Total Number 14 Disease Relevance 6.97 Pain Relevance 0.23

mitochondrion (POLG) cell death (POLG) aging (POLG) DNA binding (POLG) nucleotidyltransferase activity (POLG) DNA metabolic process (POLG)

Anatomy Link Frequency eggs 1 POLG (Homo sapiens)

Pain Link Frequency Relevance Heat Migraine 1 94.88 imagery 54 69.08 peripheral neuropathy 5 64.24 depression 8 62.56 fibrosis 6 37.44 Pain 15 20.96 headache 8 18.80 Inflammation 15 5.00 corticosteroid 8 5.00 Neuropathic pain 3 5.00

Disease Link Frequency Relevance Heat Sprains And Strains 96 100.00 Chronic Progressive External Ophthalmoplegia 40 100.00 Helminth Infection 552 99.74 Targeted Disruption 9 99.58 Stress 16 99.56 Neurological Disease 1 96.12 Headache 9 94.88 Epilepsy 22 94.48 Parkinson's Disease 56 93.96 Syndrome 34 93.24

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Detection of the POLG1 c.2447G>A (p.R722H) mutation

Gene_expression (c.2447G>A) of POLG1

1) Confidence 0.66 Published 2010 Journal BMC Neurol Section Body Doc Link PMC2873323 Disease Relevance 0.08 Pain Relevance 0.03

Analysis of the POLG1, POLG2, ANT1 and Twinkle genes

Gene_expression (genes) of POLG1

2) Confidence 0.66 Published 2010 Journal BMC Neurol Section Body Doc Link PMC2873323 Disease Relevance 0.36 Pain Relevance 0.03

Detection of the POLG1 c.2447G>A (p.R722H) mutation

Gene_expression (Detection) of POLG1

3) Confidence 0.66 Published 2010 Journal BMC Neurol Section Body Doc Link PMC2873323 Disease Relevance 0.08 Pain Relevance 0.03

In addition, environmental temperature both higher (25°C) and lower (15°C) than 20°C present quite a metabolic stress on worms, as we have detected that all different strains, including N2, glp-4(bn2), polg-1(ok1548) and polg-1(ok1548) glp-4(bn2) mutants, had highly increased mtDNA content when grown at those temperatures (Table 2).

Gene_expression (detected) of polg-1 associated with stress, helminth infection and sprains and strains

4) Confidence 0.64 Published 2009 Journal Nucleic Acids Research Section Body Doc Link PMC2665216 Disease Relevance 0.74 Pain Relevance 0

polg-1(ok1548)/mIn[dpy10(e128)mIs14]II

Gene_expression (mIs14) of polg-1

5) Confidence 0.64 Published 2009 Journal Nucleic Acids Research Section Body Doc Link PMC2665216 Disease Relevance 0.42 Pain Relevance 0

glp-4(bn2)I, polg-1(ok1548)/mIn[dpy10(e128)mIs14]II

Gene_expression (bn2) of polg-1

6) Confidence 0.64 Published 2009 Journal Nucleic Acids Research Section Body Doc Link PMC2665216 Disease Relevance 0.40 Pain Relevance 0

Clinically, POLG mutations can present from early neonatal life to late middle age, with a spectrum of phenotypes that includes common neurological disorders such as migraine, epilepsy and Parkinsonism.

Gene_expression (present) of POLG associated with parkinson's disease, epilepsy, neurological disease and migraine

7) Confidence 0.57 Published 2006 Journal Hum. Mol. Genet. Section Abstract Doc Link 16987890 Disease Relevance 0.71 Pain Relevance 0.09

Progeny of polg-1 mutants arrests in the early development

Gene_expression (Progeny) of polg-1

8) Confidence 0.56 Published 2009 Journal Nucleic Acids Research Section Body Doc Link PMC2665216 Disease Relevance 0.13 Pain Relevance 0

and for polg-1 forward 5?

Gene_expression (for) of polg-1

9) Confidence 0.56 Published 2009 Journal Nucleic Acids Research Section Body Doc Link PMC2665216 Disease Relevance 0.26 Pain Relevance 0

Mitochondrial transcript levels in polg-1 mutants

Gene_expression (mutants) of polg-1

10) Confidence 0.56 Published 2009 Journal Nucleic Acids Research Section Body Doc Link PMC2665216 Disease Relevance 0.66 Pain Relevance 0

However, polg-1 deficient animals could produce a handful of eggs that arrested during embryonic development.

Gene_expression (produce) of polg-1 in eggs

11) Confidence 0.56 Published 2009 Journal Nucleic Acids Research Section Body Doc Link PMC2665216 Disease Relevance 0.06 Pain Relevance 0

Consideration of all of these reported mutations in PEO1 might be important in deciding which gene to investigate in other families presenting with adPEO.

Gene_expression (presenting) of adPEO

12) Confidence 0.51 Published 2008 Journal Molecular Vision Section Body Doc Link PMC2579934 Disease Relevance 0.59 Pain Relevance 0.03

We recently described a knock-in mouse model that expresses an error-prone version of POLG (mtDNA mutator mice) (2).

Gene_expression (expresses) of POLG associated with targeted disruption

13) Confidence 0.50 Published 2009 Journal Nucleic Acids Research Section Body Doc Link PMC2665216 Disease Relevance 0.34 Pain Relevance 0

Autosomal recessive PEO is rarely found.

Gene_expression (found) of PEO associated with chronic progressive external ophthalmoplegia

14) Confidence 0.49 Published 2007 Journal Clinical ophthalmology (Auckland, N.Z.) Section Body Doc Link PMC2699981 Disease Relevance 2.15 Pain Relevance 0

General Comments

This test has worked.