Molecular genetic aspects of immunopathogenesis and recent trends of progress visualization method of chronic inflammatory bowel disease

The results of foreign research about the molecular and genetic mechanism of Crohn’s disease and recent trends in diagnostic visualization techniques for inflammatory bowel disease in clinic has been summarized in the article. Autophagy plays a prominent role in innate immune response towards intracellular pathogens. Discovery of autho­phagy genes ATC16L1 and IRGM as risk factors for Crohn’s disease, positioning auto­phagy as a key converging mechanism in inflammatory bowel disease. Visualized assessment methods (standard endoscopic procedure, colonoscopy, high-magnification chromocolonoscopy, confocal laser endomicroscopy, capsule endoscopy, balloon-assis­ted enteroscopy, magnetic enterography) enable assessment of proinflammatory acti­vity in the small/large intestine (mucosal, submucosal) and transmurale inflammation without the need for biopsy specimen from patients with chronic inflammatory bowel disease.

Published: 30.12.2016

References:

• Adler G. (2001) Bolezn Krona i yazvennyiy kolit. Moskva, GEOTAR-Media, 528 s.
• Grigoreva G.A., Meshalkina N.Yu. (2007) Bolezn Krona. Moskva, Meditsina, 184 s.
• Zalesskiy V.N. (2010) Sovremennyie aspektyi lazernoy meditsinyi: lechebno-diagnosticheskie tehnologii. V kn: Lazernaya meditsina na rubezhe HH–HHI vekov (monografiya). Vipol, Kiev, 896 s.
• Zalesskiy V.N., Stadnyuk L.A., Velikaya N.V. (2003) Apoptoticheskiy i autofagicheskiy puti gibeli kletki pri gipertrofii i remodelirovanii miokarda (obzor literaturyi i sobstvennyih issledovaniy). Zhurn. Akad. med. nauk UkraYini, 9(4): 699–712.
• Pirogova S.S., Sokolov V.V., Kaprin A.D. i dr. (2005) Endotsitoskopiya. Eksperiment. i klin. gastroenterol., 4(116): 12–21.
• Halif I.L., Loranskaya I.D. (2004) Vospalitelnyie zabolevaniya kishechnika. Klinika, diagnostika i lechenie. Moskva, 88 s.
• Shavrov A.A., Haritonova A. i dr. (2014) Vtoroe pokolenie kishechnyih kapsul. Vest. Ros. akad. med. nauk, 5–6: 86–90.
• Amitai M.M., Raviv-Zilka L., Hertz M. et al. (2015) Main Imaging Features of Crohn’s Disease: Agreement between MR-Enterography and CT-Enterography. Isr. Med. Assoc. J., 17(5): 293–297.
• Ardizzone S., Cassinotti A., Duca P. et al. (2011) Mucosal healing predicts late outcomes after the first course of corticosteroids for newly diagnosed ulcerative colitis. Clin. Gastroenterol. Hepatol., 9(6): 483–489.
• Bessho R., Kanai T., Hosoe N. et al. (2011) Correlation between endocytoscopy and conventional histopathology in microstructural features of ulcerative colitis. J. Gastroenterol., 46(10): 1197–1202.
• Bessissow T., Lemmens B., Ferrante M. et al. (2012) Prognostic value of serologic and histologic markers on clinical relapse in ulcerative colitis patients with mucosal healing. Am. J. Gastroenterol., 107(11): 1684–1692.
• Buda A., Facchin S., Dassie E. et al. (2015) Detection of a fluorescent-labeled avidin-nucleic acid nanoassembly by confocal laser endomicroscopy in the microvasculature of chronically inflamed intestinal mucosa. Int. J. Nanomedicine., 10: 399–408.
• Cadwell K., Liu J.Y., Brown S.L. et al. (2008) A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells. Nature, 456(7219): 259–263.
• Choi S.H., Kim K.W., Lee J.Y. et al. (2016) Diffusion-weighted Magnetic Resonance Enterography for Evaluating Bowel Inflammation in Crohn’s Disease: A Systematic Review and Meta-analysis. Inflamm. Bowel Dis., 22(3): 669–679.
• Colombel J.F., Rutgeerts P., Reinisch W. et al. (2011) Early mucosal healing with infliximab is associated with improved long-term clinical outcomes in ulcerative colitis. Gastroenterology, 141(4): 1194–1201.
• Cotter J., Dias de Castro F., Magalhães J. et al. (2015) Validation of the Lewis score for the evaluation of small-bowel Crohn’s disease activity. Endoscopy, 47(4): 330–335.
• de Melo S.W.Jr., Di Palma J.A. (2012) The role of capsule endoscopy in evaluating inflammatory bowel disease. Gastroenterol. Clin. North Am., 41(2): 315–323.
• Delgado M.A., Elmaoued R.A., Davis A.S. et al. (2008) Toll-like receptors control autophagy. EMBO J., 27(7): 1110–1121.
• Dengjel J., Schoor O., Fischer R. et al. (2005) Autophagy promotes MHC class II presentation of peptides from intracellular source proteins. Proc. Natl. Acad. Sci. USA, 102(22): 7922–7927.
• Deretic V., Levine B. (2009) Autophagy, immunity, and microbial adaptations. Cell Host. Microbe, 5(6): 527–549.
• D’Haens G., Sandborn W.J., Feagan B.G. et al. (2007) A review of activity indices and efficacy end points for clinical trials of medical therapy in adults with ulcerative colitis. Gastroenterology, 132(2): 763–786.
• Douglas L., Casamento A., Jones D. (2016) Point prevalence of general ward patients fulfilling criteria for systemic inflammatory response syndrome. Intern. Med. J., 46(2): 223–225.
• Eliakim R., Fireman Z., Gralnek I.M. et al. (2006) Evaluation of the PillCam Colon capsule in the detection of colonic pathology: results of the first multicenter, prospective, comparative study. Endoscopy, 38(10): 963–970.
• Fiorino G., Bonifacio C., Peyrin-Biroulet L. et al. (2011) Prospective comparison of computed tomography enterography and magnetic resonance enterography for assessment of disease activity and complications in ileocolonic Crohn’s disease. Inflamm. Bowel Dis., 17(5): 1073–1080.
• Florholmen J. (2015) Mucosal healing in the era of biologic agents in treatment of inflammatory bowel disease. Scand. J. Gastroenterol., 50(1): 43–52.
• Frøslie K.F., Jahnsen J., Moum B.A., Vatn M.H.; IBSEN Group (2007) Mucosal healing in inflammatory bowel disease: results from a Norwegian population-based cohort. Gastroenterology, 133(2): 412–422.
• Gal E., Geller A., Fraser G. et al. (2008) Assessment and validation of the new capsule endoscopy Crohn’s disease activity index (CECDAI). Dig. Dis. Sci., 53(7): 1933–1937.
• Goetz M., Watson A., Kiesslich R. (2011) Confocal laser endomicroscopy in gastrointestinal diseases. J. Biophotonics., 4(7–8): 498–508.
• Gralnek I.M., Defranchis R., Seidman E. et al. (2008) Development of a capsule endoscopy scoring index for small bowel mucosal inflammatory change. Aliment. Pharmacol. Ther., 27(2): 146–154.
• Gücer F.I., Senturk S., Özkanli S. et al. (2015) Evaluation of Crohn’s disease activity by MR enterography: Derivation and histopathological comparison of an MR-based activity index. Eur. J. Radiol., 84(10): 1829–1834.
• Gutierrez M.G., Vázquez C.L., Munafó D.B. et al. (2005) Autophagy induction favours the generation and maturation of the Coxiella-replicative vacuoles. Cell Microbiol., 7(7): 981–993.
• Hampe J., Franke A., Rosenstiel P. et al. (2007) A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat. Genet., 39(2): 207–211.
• Hanauer S.B., Sandborn W.J., Kornbluth A. et al. (2005) Delayed-release oral mesalamine at 4.8 g/day (800 mg tablet) for the treatment of moderately active ulcerative colitis: the ASCEND II trial. Am. J. Gastroenterol., 100(11): 2478–2485.
• Herfarth H.H., Long M.D. (2010) Capsule and balloon endoscopy: When are they really needed in patients with inflammatory bowel diseases? Dig. Dis., 28(3): 439–444.
• Herrerias J.M., Leighton J.A., Costamagna G. et al. (2008) Agile patency system eliminates risk of capsule retention in patients with known intestinal strictures who undergo capsule endoscopy. Gastrointest. Endosc., 67(6): 902–909.
• Hosoe N., Matsuoka K., Naganuma M. et al. (2013) Applicability of second-generation colon capsule endoscope to ulcerative colitis: a clinical feasibility study. J. Gastroenterol. Hepatol., 28(7): 1174–1179.
• Hurlstone D.P., Sanders D.S., McAlindon M.E. et al. (2006) High-magnification chromoscopic colonoscopy in ulcerative colitis: a valid tool for in vivo optical biopsy and assessment of disease extent. Endoscopy, 38(12): 1213–1217.
• Iddan G., Meron G., Glukhovsky A., Swain P. (2000) Wireless capsule endoscopy. Nature, 405(6785): 417.
• Jensen M.D., Kjeldsen J., Rafaelsen S.R., Nathan T. (2011) Diagnostic accuracies of MR enterography and CT enterography in symptomatic Crohn’s disease. Scand. J. Gastroenterol., 46(12): 1449–1157.
• Jounai N., Takeshita F., Kobiyama K. et al. (2007) The Atg5 Atg12 conjugate associates with innate antiviral immune responses. Proc. Natl. Acad. Sci. USA, 104(35): 14050–14055.
• Karstensen J.G., Klausen P.H., Saftoiu A., Vilmann P. (2014) Molecular confocal laser endomicroscopy: a novel technique for in vivo cellular characterization of gastrointestinal lesions. World J. Gastroenterol., 20(24): 7794–7800.
• Kiesslich R., Goetz M., Lammersdorf K. et al. (2007) Chromoscopy-guided endomicroscopy increases the diagnostic yield of intraepithelial neoplasia in ulcerative colitis. Gastroenterology, 132(3): 874–882.
• Kondratskyi A., Yassine M., Kondratska K. et al. (2013) Calcium-permeable ion channels in control of autophagy and cancer. Front Physiol., 4: 272.
• Kopylov U., Nemeth A., Koulaouzidis A. et al. (2015) Small bowel capsule endoscopy in the management of established Crohn’s disease: clinical impact, safety, and correlation with inflammatory biomarkers. Inflamm. Bowel Dis., 21(1): 93–100.
• Kruis W., Kiudelis G., Rácz I. et al.; International Salofalk OD Study Group (2009) Once daily versus three times daily mesalazine granules in active ulcerative colitis: a double-blind, double-dummy, randomised, non-inferiority trial. Gut, 58(2): 233–240. Kuballa P., Huett A., Rioux J.D. et al. (2008) Impaired autophagy of an intracellular pathogen induced by a Crohn’s disease associated ATG16L1 variant. PLoS One, 3(10): e3391.
• Kunihiro M., Tanaka S., Sumii M. et al. (2004) Magnifying colonoscopic features of ulcerative colitis reflect histologic inflammation. Inflamm. Bowel Dis., 10(6): 737–744.
• Latiano A., Palmieri O., Cucchiara S. et al. (2009) Polymorphism of the IRGM gene might predispose to fistulizing behavior in Crohn’s disease. Am. J. Gastroenterol., 104(1): 110–116.
• Lee H.K., Lund J.M., Ramanathan B. et al. (2007) Autophagy-dependent viral recognition by plasmacytoid dendritic cells. Science, 315(5817): 1398–401.
• Levine B., Deretic V. (2007) Unveiling the roles of autophagy in innate and adaptive immunity. Nat. Rev. Immunol., 7(10): 767–777.
• Li C., Capan E., Zhao Y. et al. (2006) Autophagy is induced in CD4+ T cells and important for the growth factor-withdrawal cell death. J. Immunol., 177(8): 5163–5168.
• Li C.Q., Xie X.J., Yu T. et al. (2010) Classification of inflammation activity in ulcerative colitis by confocal laser endomicroscopy. Am. J. Gastroenterol., 105(6): 1391–1396.
• Li Y., Hauenstein K. (2015) New Imaging Techniques in the Diagnosis of Inflammatory Bowel Diseases. Viszeralmedizin, 31(4): 227–234.
• Massey D., Parkes M. (2007) Common pathways in Crohn’s disease and other inflammatory diseases revealed by genomics. Gut, 56(11): 1489–1492.
• McCarroll S.A., Huett A., Kuballa P. et al. (2008) Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn’s disease. Nat. Genet., 40(9): 1107–1112.
• Meister T., Heinzow H.S., Domagk D. et al. (2013) Colon capsule endoscopy versus standard colonoscopy in assessing disease activity of ulcerative colitis: a prospective trial. Tech. Coloproctol., 17(6): 641–646.
• Michail S., Bultron G., Depaolo R.W. (2013) Genetic variants associated with Crohn’s disease. Appl. Clin. Genet., 6: 25–32.
• Miller B.C., Zhao Z., Stephenson L.M. et al. (2008) The autophagy gene ATG5 plays an essential role in B lymphocyte development. Autophagy, 4(3): 309–314.
• Naganuma M., Hisamatsu T., Kanai T., Ogata H. (2015) Magnetic resonance enterography of Crohn’s disease. Expert Rev. Gastroenterol. Hepatol., 9(1): 37–45.
• Naganuma M., Hosoe N., Kanai T., Ogata H. (2015) Recent trends in diagnostic techniques for inflammatory bowel disease. Korean J. Intern. Med., 30(3): 271–278.
• Neumann H., Neurath M.F., Mudter J. (2011) New endoscopic approaches in IBD. World J. Gastroenterol., 17(1): 63–68.
• Neurath M.F., Travis S.P. (2012) Mucosal healing in inflammatory bowel diseases: a systematic review. Gut, 61(11): 1619–1635.
• Nguyen D.L., Lee J.G., Parekh N.K. et al. (2015) The current and future role of endomicroscopy in the management of inflammatory bowel disease. Ann. Gastroenterol., 28(3): 331–336.
• Niv E., Fishman S., Kachman H. et al. (2014) Sequential capsule endoscopy of the small bowel for follow-up of patients with known Crohn’s disease. J. Crohns Colitis, 8(12): 1616–1623.
• Ogura Y., Bonen D.K., Inohara N. et al. (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease. Nature, 411(6837): 603–606.
• Ordás I., Rimola J., Rodríguez S. et al. (2014) Accuracy of magnetic resonance enterography in assessing response to therapy and mucosal healing in patients with Crohn’s disease. Gastroenterology, 146(2): 374–382.
• Orvedahl A., Alexander D., Tallóczy Z. et al. (2007) HSV-1 ICP34.5 confers neurovirulence by targeting the Beclin 1 autophagy protein. Cell Host. Microbe., 1(1): 23–35.
• Oshitani N., Yukawa T., Yamagami H. et al. (2006) Evaluation of deep small bowel involvement by double-balloon enteroscopy in Crohn’s disease. Am. J. Gastroenterol., 101(7): 1484–1489.
• Parkes M., Barrett J.C., Prescott N.J. et al. (2007) Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn’s disease susceptibility. Nat. Genet., 39(7): 830–832.
• Plantinga T.S., Joosten L.A., van der Meer J.W. et al. (2012) Modulation of inflammation by autophagy: consequences for Crohn’s disease. Curr. Opin. Pharmacol., 12(4): 497–502.
• Randall-Demllo S., Chieppa M., Eri R. (2013) Intestinal epithelium and autophagy: partners in gut homeostasis. Front. Immunol., 4: 301.
• Rath T., Tontini G.E., Neuh M.F., Neumann H. (2015) From the surface to the single cell: Novel endoscopic approaches in inflammatory bowel disease. World J. Gastroenterol., 21(40): 11260–11272.
• Rioux J.D., Xavier R.J., Taylor K.D. et al. (2007) Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat. Genet., 39(5): 596–604.
• Roberts R.L., Hollis-Moffatt J.E., Gearry R.B. et al. (2008) Confirmation of association of IRGM and NCF4 with ileal Crohn’s disease in a population-based cohort. Genes Immun., 9(6): 561–565.
• Saitoh T., Fujita N., Jang M.H. et al. (2008) Loss of the autophagy protein Atg16L1 enhances endotoxin-induced IL-1beta production. Nature, 456(7219): 264–268.
• Salminen A., Kaarniranta K., Kauppinen A. (2013) Beclin 1 interactome controls the crosstalk between apoptosis, autophagy and inflammasome activation: impact on the aging process. Ageing Res. Rev., 12(2): 520–534.
• Sato K., Shigiyama F., Ito S. et al. (2013) Colonoscopy using a small-caliber colonoscope with passive-bending after incomplete colonoscopy due to sharp angulation or pain. Surg. Endosc., 27(11): 4171–4176.
• Sauer C.G., Middleton J.P., McCracken C. et al. (2016) Magnetic Resonance Enterography Healing and Magnetic Resonance Enterography Remission Predicts Improved Outcome in Pediatric Crohn Disease. J. Pediatr. Gastroenterol. Nutr., 62(3): 378–383.
• Schroeder K.W., Tremaine W.J., Ilstrup D.M. (1987) Coated oral 5-aminosalicylic acid therapy for mildly to moderately active ulcerative colitis. A randomized study. N. Engl. J. Med., 317(26): 1625–1629.
• Shintani T., Klionsky D.J. (2004) Autophagy in health and disease: a double-edged sword. Science, 306(5698): 990–995.
• Singeap A.M., Stanciu C., Cojocariu C. et al. (2015) Capsule Endoscopy in Inflammatory Bowel Disease: Current Applications. Arch. Iran. Med., 18(6): 379–383.
• Singh S.B., Davis A.S., Taylor G.A., Dere­tic V. (2006) Human IRGM induces autophagy to eliminate intracellular mycobacteria. Science, 313(5792): 1438–1441.
• Spada C., Hassan C., Marmo R. et al. (2010) Meta-analysis shows colon capsule endoscopy is effective in detecting colorectal polyps. Clin. Gastroenterol. Hepatol., 8(6): 516–522.
• Spada C., Hassan C., Munoz-Navas M. et al. (2011) Second-generation colon capsule endoscopy compared with colonoscopy. Gastrointest. Endosc., 74(3): 581–589.
• Sung J., Ho K.Y., Chiu H.M. et al. (2012) The use of Pillcam Colon in assessing mucosal inflammation in ulcerative colitis: a multicenter study. Endo­scopy, 44(8): 754–758.
• Takenaka K., Ohtsuka K., Kitazume Y. et al. (2014) Comparison of magnetic resonance and balloon enteroscopic examination of the small intestine in patients with Crohn’s disease. Gastroenterology, 147(2): 334–342.
• Tielbeek J.A., Löwenberg M., Bipat S. et al. (2013) Serial magnetic resonance imaging for monitoring medical therapy effects in Crohn’s disease. Inflamm. Bowel Dis., 19(9): 1943–1950.
• Travis S.P., Schnell D., Krzeski P. et al. (2012) Developing an instrument to assess the endoscopic severity of ulcerative colitis: the Ulcerative Colitis Endoscopic Index of Severity (UCEIS). Gut, 61(4): 535–542.
• Travis S.P., Schnell D., Krzeski P. et al. (2013) Reliability and initial validation of the ulcerative colitis endoscopic index of severity. Gastroenterology, 145(5): 987–995.
• Usui S., Hosoe N., Matsuoka K. et al. (2014) Modified bowel preparation regimen for use in second-generation colon capsule endoscopy in patients with ulcerative colitis. Dig. Endosc., 26(5): 665–672.
• van Assche G., Herrmann K.A., Louis E. et al. (2013) Effects of infliximab therapy on transmural lesions as assessed by magnetic resonance enteroclysis in patients with ileal Crohn’s disease. J. Crohns Colitis, 7(12): 950–957.
• Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447(7145): 661–678.
• Yamamoto H., Kita H., Sunada K. et al. (2004) Clinical outcomes of double-balloon endoscopy for the diagnosis and treatment of small-intestinal diseases. Clin. Gastroenterol. Hepatol., 2(11): 1010–1016.
• Yamamoto H., Sekine Y., Sato Y. et al. (2001) Total enteroscopy with a nonsurgical steerable double-balloon method. Gastrointest. Endosc., 53(2): 216–220.
• Ye C.A., Gao Y.J., Ge Z.Z. et al. (2013) PillCam colon capsule endoscopy versus conventional colonoscopy for the detection of severity and extent of ulcerative colitis. J. Dig. Dis., 14(3): 117–124.
• Yoon K., Chang K.T., Lee H.J. (2015) MRI for Crohn’s Disease: Present and Future. Biomed. Res. Int., 2015: 786802.