INT53184

Context Info Confidence 0.57 First Reported 1994 Last Reported 2010 Negated 0 Speculated 1 Reported most in Body Documents 46 Total Number 48 Disease Relevance 16.04 Pain Relevance 5.28

mitochondrion (CYP27A1) small molecule metabolic process (CYP27A1)

Anatomy Link Frequency cartilage 2 hip 2 spine 2 bile 2 articular 1 CYP27A1 (Homo sapiens)

Pain Link Frequency Relevance Heat COX-2 inhibitor 78 99.80 Adalimumab 3 99.62 spinal inflammation 66 99.32 Osteoarthritis 954 98.92 Bile 9 97.48 rheumatoid arthritis 398 97.04 methotrexate 33 96.56 anesthesia 3 96.48 Infliximab 22 96.12 Analgesic 15 95.80

Disease Link Frequency Relevance Heat Hypercalcemia 376 100.00 Disease 351 100.00 Lipidosis 16 99.90 Van Bogaert's Disease 14 99.48 Rheumatoid Arthritis 455 99.44 Low Back Pain 77 99.32 Osteoarthritis 702 98.92 Disorder Of Lipid Metabolism 15 98.12 Dementia 4 95.44 Ataxia 95 94.88

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Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Five inborn errors with consequences for bile acid biosynthesis have been described: 7-dehydrocholesterol 7-reductase deficiency, 3 beta-hydroxysteroid delta 5-oxidoreductase/isomerase deficiency, 3-oxo-delta 4-steroid 5 beta-reductase deficiency, sterol 27-hydroxylase deficiency (cerebrotendinous xanthomatosis), and peroxisomal disease(s) with absence of peroxisomes.

Negative_regulation (deficiency) of sterol 27-hydroxylase in bile associated with bile, van bogaert's disease and disease

1) Confidence 0.57 Published 1994 Journal Scand. J. Gastroenterol. Suppl. Section Abstract Doc Link 7824882 Disease Relevance 0.38 Pain Relevance 0.18

These results are highly suggestive, but not conclusive, that the newly identified transversion in the CYP27 gene accounts for the sterol 27-hydroxylase (EC 1.14.13.15) deficiency in these patients.

Negative_regulation (deficiency) of sterol 27-hydroxylase

2) Confidence 0.57 Published 1996 Journal J. Lipid Res. Section Abstract Doc Link 8728324 Disease Relevance 0.89 Pain Relevance 0.18

Additionally, in contrast to placebo, adalimumab has been shown to decrease uCTX-II levels in patients with RA (17.3% decrease, p < 0.01) (Garnero P, 2004).

Negative_regulation (decrease) of CTX associated with rheumatoid arthritis and adalimumab

3) Confidence 0.57 Published 2006 Journal Biomark Insights Section Body Doc Link PMC2716783 Disease Relevance 0.71 Pain Relevance 0.25

Finally, Landewe and colleagues demonstrated a decrease in uCTX-II levels in RA patients after 3 months of treatment with disease modifying anti-rheumatic drug (DMARD) therapy.

Negative_regulation (decrease) of CTX associated with rheumatoid arthritis and disease

4) Confidence 0.57 Published 2006 Journal Biomark Insights Section Body Doc Link PMC2716783 Disease Relevance 0.55 Pain Relevance 0.19

In the case of sterol 27-hydroxylase deficiency, early treatment with chenodeoxycholic acid may prevent the development of progressive neurological dysfunction, dementia, and ataxia.

Negative_regulation (deficiency) of sterol 27-hydroxylase associated with anesthesia, ataxia, dementia and van bogaert's disease

5) Confidence 0.42 Published 1994 Journal Scand. J. Gastroenterol. Suppl. Section Abstract Doc Link 7824882 Disease Relevance 0.53 Pain Relevance 0.22

This decline in uCTX-II at 3 months predicted long term (5 year) improvement in radiographic outcome (Landewe et al. 2004).

Negative_regulation (decline) of CTX

6) Confidence 0.42 Published 2006 Journal Biomark Insights Section Body Doc Link PMC2716783 Disease Relevance 0.39 Pain Relevance 0.15

Cerebrotendinous xanthomatosis (CTX) or sterol 27-hydroxylase deficiency is an autosomal recessive disorder characterized by defect in bile acid biosynthesis and storage of sterols, and early childhood onset.

Negative_regulation (deficiency) of sterol 27-hydroxylase in bile associated with bile and lipidosis

7) Confidence 0.42 Published 2006 Journal Orphanet J Rare Dis Section Body Doc Link PMC1664553 Disease Relevance 1.48 Pain Relevance 0.08

Decreased CTX at various time points during bisphosphonate therapy is strongly correlated with BMD increases at 6 months and 1 year (Leeming et al 2006).

Negative_regulation (Decreased) of CTX

8) Confidence 0.41 Published 2008 Journal Clinical Interventions in Aging Section Body Doc Link PMC2682394 Disease Relevance 0.24 Pain Relevance 0

In the present study, an elevated urinary CTX-I level, a marker for bone resorption, was found to reflects increased disease activity and decreased BMD in men with AS.

Negative_regulation (decreased) of CTX-I associated with spinal inflammation, hypercalcemia and disease

9) Confidence 0.37 Published 2008 Journal Yonsei Medical Journal Section Body Doc Link PMC2615310 Disease Relevance 1.11 Pain Relevance 0.38

Levels of both CTX-II and CTX-I, as markers of cartilage and bone degradation respectively, decreased by approximately 50% in the treatment group compared with baseline, and CTX-II levels were restored to premenopausal levels.

Negative_regulation (decreased) of CTX-II in cartilage

10) Confidence 0.33 Published 2010 Journal BMC Musculoskelet Disord Section Body Doc Link PMC2902412 Disease Relevance 0.50 Pain Relevance 0.19

Levels of both CTX-II and CTX-I, as markers of cartilage and bone degradation respectively, decreased by approximately 50% in the treatment group compared with baseline, and CTX-II levels were restored to premenopausal levels.

Negative_regulation (decreased) of CTX-I in cartilage

11) Confidence 0.33 Published 2010 Journal BMC Musculoskelet Disord Section Body Doc Link PMC2902412 Disease Relevance 0.50 Pain Relevance 0.19

In the combined sCT treatment group analysis, robust reductions in both CTX-I and CTX-II were observed shortly after the morning dose, albeit with a more rapid reduction in CTX-I than CTX-II (Figure 5B).

Negative_regulation (reductions) of CTX-II

12) Confidence 0.33 Published 2010 Journal BMC Musculoskelet Disord Section Body Doc Link PMC2902412 Disease Relevance 0.13 Pain Relevance 0.04

In the combined sCT treatment group analysis, robust reductions in both CTX-I and CTX-II were observed shortly after the morning dose, albeit with a more rapid reduction in CTX-I than CTX-II (Figure 5B).

Negative_regulation (reduction) of CTX-I

13) Confidence 0.33 Published 2010 Journal BMC Musculoskelet Disord Section Body Doc Link PMC2902412 Disease Relevance 0.25 Pain Relevance 0.04

In the combined sCT treatment group analysis, robust reductions in both CTX-I and CTX-II were observed shortly after the morning dose, albeit with a more rapid reduction in CTX-I than CTX-II (Figure 5B).

Negative_regulation (reductions) of CTX-I

14) Confidence 0.33 Published 2010 Journal BMC Musculoskelet Disord Section Body Doc Link PMC2902412 Disease Relevance 0.13 Pain Relevance 0.04

The third infusion of zoledronic acid led to a 60% reduction of CTx levels within 9–11 days; this was followed by a gradual increase, indicating the persistence of bone resorption in patients receiving zoledronic acid.

Negative_regulation (reduction) of CTx associated with hypercalcemia

15) Confidence 0.30 Published 2010 Journal Drug Design, Development and Therapy Section Body Doc Link PMC2998805 Disease Relevance 0.27 Pain Relevance 0.03

CTX-I in the HRT group was reduced by 62 ± 5% (mean ± SEM) after 12 months and 53 ± 6% after 24 months.

Negative_regulation (reduced) of CTX-I

16) Confidence 0.29 Published 2004 Journal Arthritis Res Ther Section Body Doc Link PMC546286 Disease Relevance 0 Pain Relevance 0.03

A small reduction of CTX-I was also noticed in the control group at the end of first year, which possibly could be due to the treatment with calcium and vitamin D3.

Negative_regulation (reduction) of CTX-I

17) Confidence 0.29 Published 2004 Journal Arthritis Res Ther Section Body Doc Link PMC546286 Disease Relevance 0.29 Pain Relevance 0.15

HRT caused a pronounced decrease in the collagen type I degradation marker, CTX-I, both when the HRT and control groups were compared (P < 0.001) and within the HRT group (P < 0.001) (Fig. 1a).

Negative_regulation (decrease) of CTX-I

18) Confidence 0.29 Published 2004 Journal Arthritis Res Ther Section Body Doc Link PMC546286 Disease Relevance 0 Pain Relevance 0.03

A reduction in ICTP was correlated with improved BMD in the lumbar spine (P = 0.002) and total hip (P = 0.027) and with a decrease in ESR (P = 0.006), CTX-II (P = 0.001), and COMP (P = 0.005), besides the correlation with CTX-I.

Negative_regulation (decrease) of CTX-II in spine

19) Confidence 0.29 Published 2004 Journal Arthritis Res Ther Section Body Doc Link PMC546286 Disease Relevance 0 Pain Relevance 0

A decrease in CTX-I was correlated with increased bone mass in the total hip (P < 0.001) and lumbar spine (P < 0.001) and with a reduction in ICTP (P < 0.001), PICP (P = 0.005) and ESR (P = 0.019).

Negative_regulation (decrease) of CTX-I in spine

20) Confidence 0.25 Published 2004 Journal Arthritis Res Ther Section Body Doc Link PMC546286 Disease Relevance 0 Pain Relevance 0

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