MOLECULAR GENETICS AND CLINICAL ASPECTS OF MONOGENIC DIABETES MELLITUS

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Abstract


The paper is dedicated to clinical and laboratory aspects of Diabetes Mellitus non-immune forms, such as neonatal Diabetes Mellitus, Maturity Onset Diabetes of young (MODY), DIDMOAD-syndrome, Wolframe syndrome, Alstrom syndrome and its determinating genes. The analysis of proper clinical results are present in this paper.


About the authors

V. A. Peterkova

Scientific centre of endocrinology Ministry of Healthcare and Social development of Russia, Moscow

Author for correspondence.
Email: peterkovava@hotmail.com

Russian Federation д.м.н., профессор, член-корреспондент РАМН, директор Института детской эндокринологии ФГБУ ЭНЦ Минздравсоцразвития России Адрес: 117036, Москва, ул. Дм. Ульянова, 11 Тел.: (499) 124-02-66

T. L. Kuraeva

Scientific centre of endocrinology Ministry of Healthcare and Social development of Russia, Moscow

Email: endiab@mail.ru

Russian Federation д.м.н., профессор, заведующая отделением диабетологии Института детской эндокри- нологии ФГБУ ЭНЦ Минздравсоцразвития России Адрес: 117036, Москва, ул. Дм. Ульянова, 11 85 1. Barret T.G., Ehtisham S. The emergence of type 2 diabetes in childhood. Ann Clin Biochem. 2004; 41: 10–16. 2. ISPAD Clinical Practice Consensus Guidelines 2009 Compendium. Pediatric Diabetes. 2009; 10 (Suppl. 12): 1–2. 3. ISPAD Clinical Practice Consensus Guidelines 2006–2007. Pediatric Diabetes. 2006; 7: 352–360. 4. Njolstad P.R., Molven A., Sovik O. Insulin resistance in children and adolescents with type 1 diabetes mellitus: relation to obesity. In «Diabetes in Childhood and Adolescence» Ed. Chiarelli F., DahlJogensen K., Kiess W. Karger. 2005: 86–93. 5. Hansen L., Urioste S., Petersen H.V. et al. Missense Mutations in the Human Insulin Promoter Factor-1 Gene and Their Relation to Maturity-Onset Diabetes of the Young and Late-Onset Type 2 Diabetes Mellitus in Caucasians. Clinical Endocrinology & Metabolism. 2000; 85 (3): 1323–1326. 6. Hani E.H. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest. 1999; 104: 41–48. 7. Dedov I.I., Kuraeva T.L., Peterkova V.A. Saharnyi diabet u detei i podrostkov. M. 2007. 8. Rami B., Bodamer O., Item B. et al. Clinical and molecular findings in an atypical case of IPEX-syndrome. Pediatric Diabetes. 2006; 7: 28. 9. Paskova M. Sulfonylurea instead of insulin in PNDM patients with activating mutation in the gene KCNJ11 encoding the Kir6.2 subunit led to significant improvement of DM compensation. Pediatric Diabetes. 2006; 7: 34. 10. Gloyn A., Pearson E., Antcliff J. et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med. 2004; 350: 1838–1849. 11. Barret T.G. Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered. Pediatric Diabetes. 2007; 8: 15–23. 12. Pearson E., Flechtner I., Njolstad Р. et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med. 2006; 355: 467–477. 13. Tattersal R. B., Fajans S.S. A difference between the inheritance of classicaljuvenile-onset and maturity-onset type of diabetes in young people. Diabetes. 1975; 24: 44–53. 14. Hattersley A. , Pearson E. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type. Endocrinology. 2006; 147: 2657–2663. 15. Haines L., Wan K., Lynn R. et al. Rising incidence of type 2 diabetes in children in the U.K. Diabetes Сare. 2007; 30: 1097–1101. 16. Miller S.P., An and G.R., Karschnia E.S. et al. Testing computational prediction of missense mutation phenotypes. Diabetes. 1999; 48 (8): 1645. 17. Pearson E.R., Starkey B.J., Powell R.J. et al. Genetic aetiology of hyperglycaemia determines response to treatment in diabetes. Lancet. 2003; 362: 1275–1281. 18. Strom T.M., Hortnagel K., Hofmann S. et al. Diabetes insipidus? Diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet. 1998;7: 2021–2028. 19. Alstrоm C.H., Hallgren B., Nilsson L.B., Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl. 1959; 129: 1–35. 20. Paisey R.B., Carey C.M., Bower L. et al. Hypertriglyceridaemia in Alstrоm’s syndrome: causes and associations in 37 cases. Clin Endocrinol (Oxf). 2004; 60: 228–231. REFERENCES 86 ВЕСТНИК РАМН /2012/ № 1 Тел.: (903) 686-05-61

S. A. Prokof’ev

Scientific centre of endocrinology Ministry of Healthcare and Social development of Russia, Moscow

Email: Genetics2@yandex.ru

Russian Federation к.м.н., заведующий лабораторией генетики и клинической иммунологии ФГБУ ЭНЦ Минздравсоцразвития России Адрес: 117036, Москва, ул. Дм. Ульянова, 11 Тел.: (916) 443-27-31

A. O. Emel'yanov

Scientific centre of endocrinology Ministry of Healthcare and Social development of Russia, Moscow

Email: endiab@mail.ru

Russian Federation к.м.н., ведущий научный сотрудник Института детской эндокринологии ФГБУ ЭНЦ Минздравсоцразвития России Адрес: 117036, Москва, ул. Дм. Ульянова, 11 Тел.: (916) 443-27-31, (499) 126-27-60

E. Yu. Zakharova

Scientific centre of endocrinology Ministry of Healthcare and Social development of Russia, Moscow

Email: labnbo@yandex.ru

Russian Federation к.м.н., заведующая лабораторией наследственных болезней обмена веществ ФГБУ Медико-генетического научного центра РАМН Адрес: 115478, Москва, ул. Москворечье, 1 Тел.: (499) 324-20-04

P. G. Tsygankova

Scientific centre of endocrinology Ministry of Healthcare and Social development of Russia, Moscow

Email: labnbo@yandex.ru

Russian Federation научный сотрудник лаборатории наследственных болезней обмена веществ ФГБУ Медико-генетического научного центра РАМН Адрес: 115478, Москва, ул. Москворечье, 1 Тел.: (499) 324-20-04

D. P. Grishina

Scientific centre of endocrinology Ministry of Healthcare and Social development of Russia, Moscow

Email: s.dasha81@mail.ru

Russian Federation аспирант Института детской эндокринологии ФГБУ ЭНЦ Минздравсоцразвития России Адрес: 117036, Москва, ул. Дм. Ульянова, 11 Тел.: (499) 124-45-40

References

  1. Barret T.G., Ehtisham S. The emergence of type 2 diabetes in childhood. Ann. Clin. Biochem. 2004; 41: 10–16.
  2. ISPAD Clinical Practice Consensus Guidelines 2009 Compendium. Pediatric. Diabetes. 2009; 10 (Suppl. 12): 1–2.
  3. ISPAD Clinical Practice Consensus Guidelines 2006–2007. Pediatric. Diabetes. 2006; 7: 352–360.
  4. Njolstad P.R., Molven A., Sovik O. Insulin resistance in children and adolescents with type 1 diabetes mellitus: relation to obesity. In «Diabetes in Childhood and Adolescence» Ed. Chiarelli F., DahlJogensen K., Kiess W. Karger. 2005: 86–93.
  5. Hansen L., Urioste S., Petersen H.V. et al. Missense Mutations in the Human Insulin Promoter Factor-1 Gene and Their Relation to Maturity-Onset Diabetes of the Young and Late-Onset Type 2 Diabetes Mellitus in Caucasians. Clinical Endocrinology & Metabolism. 2000; 85 (3): 1323–1326.
  6. Hani E.H. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J. Clin. Invest. 1999; 104: 41–48.
  7. Dedov I.I., Kuraeva T.L., Peterkova V.A. Saharnyi diabet u detei i podrostkov [Diabetes in Children and Adolescent]. Moscow, 2007.
  8. Rami B., Bodamer O., Item B. et al. Clinical and molecular findings in an atypical case of IPEX-syndrome. Pediatric Diabetes. 2006; 7: 28.
  9. Paskova M. Sulfonylurea instead of insulin in PNDM patients with activating mutation in the gene KCNJ11 encoding the Kir6.2 subunit led to significant improvement of DM compensation. Pediatric Diabetes. 2006; 7: 34.
  10. Gloyn A., Pearson E., Antcliff J. et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N. Engl. J. Med. 2004; 350: 1838–1849.
  11. Barret T.G. Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered. Pediatric Diabetes. 2007; 8: 15–23.
  12. Pearson E., Flechtner I., Njolstad Р. et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N. Engl. J. Med. 2006; 355: 467–477.
  13. Tattersal R. B., Fajans S.S. A difference between the inheritance of classicaljuvenile-onset and maturity-onset type of diabetes in young people. Diabetes. 1975; 24: 44–53.
  14. Hattersley A. , Pearson E. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type. Endocrinology. 2006; 147: 2657–2663.
  15. Haines L., Wan K., Lynn R. et al. Rising incidence of type 2 diabetes in children in the U.K. Diabetes Сare. 2007; 30: 1097–1101.
  16. Miller S.P., An and G.R., Karschnia E.S. et al. Testing computational prediction of missense mutation phenotypes. Diabetes. 1999; 48 (8): 1645.
  17. Pearson E.R., Starkey B.J., Powell R.J. et al. Genetic aetiology of hyperglycaemia determines response to treatment in diabetes. Lancet. 2003; 362: 1275–1281.
  18. Strom T.M., Hortnagel K., Hofmann S. et al. Diabetes insipidus? Diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum. Mol. Genet. 1998;7: 2021–2028.
  19. Alstrоm C.H., Hallgren B., Nilsson L.B., Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr. Neurol Scand. Suppl. 1959; 129: 1–35.
  20. Paisey R.B., Carey C.M., Bower L. et al. Hypertriglyceridaemia in Alstrоm’s syndrome: causes and associations in 37 cases. Clin. Endocrinol. (Oxf). 2004; 60: 228–231.

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