Participation of mutant genes in the pathogenesis of the idiopathic pancreatitis


Cite item

Full Text

Abstract

The analysis of distribution of polymorphic variants of the genes of the cationic tripsinogen (PRSS1), inhibitor of tripsin
(SPINK1), regulator of the cystic fi brosis (CFTR) and genes of glutathione-S-transferase M1 (GSTM1) and T1 (GSTT1)
is carried out. This research was held according to the group of people, who have the disease of idiopathic pancreatitis (32
people). This group of people was compared with the donors (69 people). The gene mutation exists under the condition of the
appearing of the acute idiopathic pancreatitis. In Krasnoyarsk 31,25% patients, who have the acute pancreatitis and 9,4%
of patients with pancreatonecrosis have polymorphic variants of the gene GSTM1. The destructive form of the pancreatitis
is diagnosed for 28,1% of patients. Patients with idiopathic pancreatitis have the risk of development of the heavy form of
the disease in 33,3% of cases is caused by the isolated mutations of a gene inhibitor of tripsin. The mutations of the gene
of cation tripsinogen in a combination with the polymorphic variants of genes SPINK1, GSTM1, CFTR are lethal genetic
determinants defi ning an adverse current of the destructive process.

About the authors

Красноярский государственный медицинский университет им. профессора В.Ф.Войно-Ясенецкого

Author for correspondence.
Email: olga-pervova@mail.ru
д.м.н., профессор, за-
служенный деятель науки Российской Федерации,
заведующий кафедрой общей хирургии Краснояр-
ского государственного медицинского университе-
та им. профессора В.Ф.Войно-Ясенецкого

Красноярский государственный медицинский университет им. профессора В.Ф.Войно-Ясенецкого

Email: olga-pervova@mail.ru
д.м.н., профессор
кафедры общей хирургии Красноярского государ-
ственного медицинского университета им. профес-
сора В.Ф.Войно-Ясенецкого

Красноярский государственный медицинский университет им. профессора В.Ф.Войно-Ясенецкого

Email: olgapervova@mail.ru
д.м.н., про-
фессор, заведующий кафедрой хирургических бо-
лезней №1 с курсом сердечно-сосудистой хирур-
гии им. профессора А.М.Дыхно Красноярского
государственного медицинского университета им.
профессора В.Ф.Войно-Ясенецкого

Сибирский федеральный университет, г. Красноярск

Email: olga-pervova@mail.ru
к.б.н., доцент ка-
федры биохимии и физиологии животных тканей
Сибирского Федерального университета

References

  1. Baranov A.S., Baranova E.V., Ivashchenko T.E., Aseev M.V.
  2. Genom cheloveka i geny «predraspolozhennosti» (vve-
  3. denie v preduktivnuiu meditsinu) SPb.: Intermedika
  4. ; 271.
  5. Baranov V.S. Geneticheskie osnovy predraspolozhenno-
  6. sti k nekotorym chastym mul'tifaktorial'nym zabo-
  7. levaniiam. Med. genetika 2004; 3: 102-112.
  8. Baranov V.S. Genomika i molekuliarnaia meditsina. Mo-
  9. lekuliar. biologiia 2004; 1: 110-117.
  10. Vavilin V.A., Makarova S.I., Liakhovich V.V. Assotsiatsiia
  11. polimorfnykh genov fermentov biotransformatsii
  12. ksenobiotikov s predraspolozhennost'iu k bronkhial'-
  13. noi astme u detei s nasledstvennoi otiagoshchennost'iu i
  14. bez takovoi. Genetika 2001; 1: 107-111.
  15. Kapranov N.I., Kashirskaia N.Iu., Petrova N.V. Muko-
  16. vistsidoz: dostizheniia i problemy na sovremennom eta-
  17. pe. Med. genetika 2004; 9: 398-412.
  18. Maev I.V. Nasledstvennyi pankreatit. Ros. zhurn.
  19. gastroenterologii, gepatologii i koloproktologii
  20. ; 1: 20-25.
  21. Maev I.V., Kucheriavyi Iu.A. Rol' mutatsii gena kati-
  22. onicheskogo tripsinogena (PRSS1-gena) v patogeneze
  23. khronicheskogo pankreatita. Klinich. meditsina 2004;
  24. : 12-16.
  25. Markova E.V., Zotova N.V., Titova N.M. Nasledovanie
  26. pankreatita: sovremennye aspekty. Aktual'nye pro-
  27. blemy biologii, meditsiny, ekologii 2004; 1-3: 49-51.
  28. Markova E.V., Konovalenko A.N., Titova N.M. Genetiko-
  29. biokhimicheskie osobennosti glutation-S-transferazy
  30. u bol'nykh ostrym pankreatitom. Eksperim. i klinich.
  31. gastroenterologiia 2004; 1: 113-114.
  32. Shangareeva Z.A., Viktorova T.V., Nasyrov Kh.M. Ana-
  33. liz polimorfizma genov, uchastvuiushchikh v metabolizme
  34. etanola, u lits s alkogol'noi bolezn'iu pecheni. Med.
  35. genetika 2003; 11: 485-490.
  36. Bernardino A.L.F., Guarita D.R., Carlos B.M. CFTR,
  37. PRSS1 and SPINK1 Mutations in the Development of
  38. Pancreatitis in Brazilian Patients. J. Pancreas 2003; 4: 5:
  39. -177.
  40. Chen J.M., Piepoli A., Le Bodic L. Mutational screening of
  41. the cationic trypsinogen gene in a large cohort of subjects
  42. with idiopathic chronic pancreatitis. Clin. Genet 2001; 59:
  43. -193.
  44. Chen J.M., Raguenes O., Ferec C. CGC-to-CAT gene
  45. conversion-like event resulting in the R122H mutation in
  46. the cationic trypsinogen gene and its implication in the
  47. genotyping of pancreatitis. J. Med. Genet 2000; 37: 11: 36.
  48. Gorry M.C., Gabbaizadeh D., Furey W. Multiple mutations
  49. in the cationic trypsinogen gene are associated with
  50. hereditary pancreatitis. Gastroenterology 1997; 113: 1063-
  51. Kukor Z., Toth M., Pal G. Human cationic trypsinogen.
  52. Arg(117) is the reactive site of an inhibitory surface loop
  53. that controls spontaneous zymogen activation. J. Biol.
  54. Chem 2002; 277: 6111-6117.
  55. Naruse S. Molecular pathophysiology of pancreatitis.
  56. Intern. Med 2003; 42: 3: 288-289.
  57. Patuzzo C., Castellani C., Sagramoso C. Cationic
  58. trypsinogen and pancreatic secretory trypsin inhibitor gene
  59. mutations in neonatal hypertrypsinaemia. Eur. J. Hum.
  60. Genetics 2003; 11: 1: 93-96.
  61. Simon P., Weiss F.U., Sahin-Tóth M. Hereditary pancreatitis
  62. caused by a novel PRSS1 mutation (Arg-122 –> Cys) that
  63. alters autoactivation and autodegradation of cationic
  64. trypsinogen. J. Biol. Chem 2002; 277: 5404-5410.
  65. Teich N., Bauer N., Mössner J. Mutational screening
  66. of patients with nonalcoholic chronic pancreatitis:
  67. identifi cation of further trypsinogen variants. Am. J.
  68. Gastroenterol 2002; 97: 341-346.
  69. Truninger K., Ammannb R.W., Bluma H.E., Witt H.
  70. Genetic aspects of chronic pancreatitis: insights into
  71. aetiopathogenesis and clinical implications. Swiss Med.
  72. Wkly 2001; 131: 565-574.

Supplementary files

Supplementary Files
Action
1. JATS XML

Copyright (c) 2011 ., ., ., .

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies