The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Login
EN
+7 (495) 482-4118
+7 (495) 482-0604

  • © 1998-2025
+7 (495) 482-43-29
EN
All journals
Journal
Year
Year
Search result: 0

Sechko E.A.

Sechenov First Moscow State Medical University, Moscow, Russia

Kuraeva T.L.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

Zil'berman L.I.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF

Ivanova O.N.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF, Moskva

Peterkova V.A.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

MODY3 in the children and adolescents: the molecular-genetic basis and clinico-laboratory manifestations

Authors:

Sechko E.A., Kuraeva T.L., Zil'berman L.I., Ivanova O.N., Peterkova V.A.

More about the authors

Journal: Problems of Endocrinology. 2015;61(3): 16‑22

DOI: 10.14341/probl201561316-22

Views: 550

Downloaded: 6

Download PDF (RU)
Contact the author
Table of contents

MODY3 IN THE CHILDREN AND ADOLESCENTS: THE MOLECULAR-GENETIC BASIS AND CLINICO-LABORATORY MANIFESTATIONS
MODY3 IN THE CHILDREN AND ADOLESCENTS: THE MOLECULAR-GENETIC BASIS AND CLINICO-LABORATORY MANIFESTATIONS

To cite this article:

Sechko EA, Kuraeva TL, Zil'berman LI, Ivanova ON, Peterkova VA. MODY3 in the children and adolescents: the molecular-genetic basis and clinico-laboratory manifestations. Problems of Endocrinology. 2015;61(3):16‑22. (In Russ.)
https://doi.org/10.14341/probl201561316-22

МСФ на ЯМ
Close metadata
Recommended articles:
Robot-assisted treatment of spleen cysts in children: first expe­rience. Endo­scopic Surgery. 2024;(2):79-84
Tooth decay and autism spectrum diso­rders in children: is there a connection?. Stomatology. 2024;(2):71-76
The resu­lts of vital pulpotomy in primary teeth in children with nega­tive beha­vior. Stomatology. 2024;(2):77-79
Clinical and labo­ratory features of subclinical hypo­thyroidism in 7—12 years old children. Russian Journal of Preventive Medi­cine. 2024;(5):53-59
Choanoplasty in children of the first year of life: new oppo­rtunities and reha­bilitation without stents. Russian Bulletin of Otorhinolaryngology. 2024;(2):40-45
Halo­therapy in reha­bilitation of children. Rege­nerative Biotechnologies, Preventive, Digi­tal and Predictive Medi­cine. 2024;(1):37-44
Endo­types of chro­nic rhinosinusitis in children. Russian Rhinology. 2024;(2):82-88
Nissen robot-assisted fundoplication in a child with gastroesophageal reflux. Endo­scopic Surgery. 2024;(3):41-47
Risk factors for the iron defi­ciency anemia deve­lopment in infa­nts: pylot study. Russian Journal of Preventive Medi­cine. 2024;(6):53-59
Factors asso­ciated with eating diso­rders risk in adolescents. Russian Journal of Preventive Medi­cine. 2024;(6):60-67

The present study of HNF1А gene involved 121 children suspected to have the nonimmune-mediated form of diabetes mellitus. Diagnosis of MODY3 was verified in 18 (19.4%) probands. Disturbances of carbohydrate metabolism in one of the parents were documented in 94.5% of the cases. Metabolic disorders were revealed in the probands at the mean age of 11.65 years (9.8; 14.6), the clinical manifestations of diabetes mellitus (DM) were apparent in 16.7% of the children, the fasting blood glucose level was 7.5 mmol/l, HbA1c 6.6% (6.5; 7.7), 66.7% of the children had a history of glucosuria and 33.3% suffered obesity. The normal fasting blood glucose and HbA1c levels were found in 22.2% of the children. In 100% of the cases, results of OGTT suggested diabetes despite insulin secretion. Low titers of anti-GAD and anti-IA2 antibodies were detected in 20.0 and 22.2% of the children respectively. The most common mutation was p.P291fs.

Keywords:

MODY3
HNF1A
monogenic diabetes
children
adolescents

Authors:

Sechko E.A.

Sechenov First Moscow State Medical University, Moscow, Russia

Kuraeva T.L.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

Zil'berman L.I.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF

Ivanova O.N.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF, Moskva

Peterkova V.A.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

List of references:

  1. Tattersall RB. Mild familial diabetes with dominant inheritance. Q J Med. 1974;43(170):339-357.
  2. Tattersall RB, Fajans SS, Arbor A. A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes of young people. Diabetes. 1975;24(1):44-53.  doi: 10.2337/diab.24.1.44.
  3. Fajans SS, Conn JW. Tolbutamide-induced improvement in carbohydrate tolerance of young people with mild diabetes mellitus. Diabetes. 1960;9(2):83-88.  doi:10.2337/diab.9.2.83.
  4. Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic β-cell diabetes. Nat Clin Pract Endoc. 2008;4(4):200-213.  doi:10.1038/ncpendmet0778.
  5. Hattersley A, Bruining J, Shield J, et al. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2009;10:33-42.  doi:10.1111/j.1399-5448.2009.00571.x.
  6. Shields BM, Hicks S, Shepherd MH, et al. Maturity-onset diabetes of the young (mody): how many cases are we missing? Diabetologia. 2010;53(12):2504-2508. doi: 10.1007/s00125-010-1799-4.
  7. Pihoker C, Gilliam LK, Ellard S, et al. Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A and glucokinase: results from the search for diabetes in youth. J Clin Endocrinol Metabol. 2013;98(10):4055-4062. doi: 10.1210/jc.2013-1279.
  8. Ellard S, Bellanné-Chantelot C, Hattersley AT. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia. 2008;51(4):546-553.  doi: 10.1007/s00125-008-0942-y.
  9. American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care. 2011;35:S64-S71.  doi: 10.2337/dc12-s064.
  10. Kuraeva TL, Sechko EA, Eremina IA, et al. MODY3 in the child with type 2 diabetes mellitus phenotype: case report. Diabetes mellitus. 2013;16(2):88-93. doi: 10.14341/2072-0351-3762.
  11. Zubkova NA, Arbatskaya NYu, Petryaikina EE, et al. Type 3 form of MODY: the clinical and molecular-genetic characteristic. Nine cases of the disease. Probl Endocrinol. (Mosk.). 2014;60(1):51-56. (in Russ.). doi: 10.14341/probl201460151-56. 
  12. Yamagata K, Oda N, Kaisaki PJ, et al. Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3). Nature. 1996;384(6608):455-458.  doi:10.1038/384455a0.
  13. Vaxillaire M, Boccio V, Philippi A, et al. A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q. Nat Genet. 1995;9(4):418-423. doi: 10.1038/ng0495-418.
  14. Pontoglio M, Barra J, Hadchouel M, et al. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal fanconi syndrome. Cell. 1996;84(4):575-585.  doi: 10.1016/s0092-8674(00)81033-8.
  15. Bach I, Yaniv M. More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing. EMBO J. 1993;12(11):4229-4242. PMC413717.
  16. Colclough K, Bellanne-Chantelot C, Saint-Martin C, et al. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat. 2013;34(5):669-685.  doi:10.1002/humu.22279.
  17. Harries LW. Isomers of the tcf1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet. 2006;15(14):2216-2224. doi:10.1093/hmg/ddl147.
  18. Dedov II, Mel’nichenko GA, Peterkova VA, Remizov OV. Obesity. Moscow: MIA. 2004;456. (In Russ.).
  19. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001;345(13):971-980. doi: 10.1056/nejmra002168.
  20. Bellanné-Chantelot C, Lévy DJ, Carette C, et al. Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of thehnf1agene. J Clin Endocrinol Metab. 2011;96(8):E1346-E1351. doi: 10.1210/jc.2011-0268.
  21. Fajans SS, Bell GI. Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees. Diabetologia. 2006;49(5):1106-1108. doi: 10.1007/s00125-006-0158-y.
  22. Bellanne-Chantelot C, Carette C, Riveline JP, et al. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes. 2007;57(2):503-508. doi:0.2337/db07-0859.
  23. Stanik J, Dusatkova P, Cinek O, et al. De novo mutations of GSK, HNF1α and HNF4A may be more frequent in MODY than previously assumed. Diabetologia. 2013;57(3):480-484.  doi:10.1007/s00125-013-3119-2.
  24. Bellanne-Chantelot C, Iafusco D, Blanche H, et al. Screening for mutations in the glucokinase (MODY2/GCK) and hepatocyte nuclear factor 1-alpha (MODY3/HNF1-alpha) genes in south-italian families. Diabetologia. 1998;41:(suppl 1):A115,422.
  25. Glucksmann MA, Lehto M, Tayber O. et al. Novel mutations and a mutational hotspot in the MODY3 gene. Diabetes. 1997;46(6):1081-1086. doi:10.2337/diab.46.6.1081.
  26. Schober E, Rami B, Grabert M. et al. Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicentre database. Diabet Med. 2009;26(5):466-473. doi:10.1111/j.1464-5491.2009.02720.x.
  27. Kondrashova A, Viskari H, Kulmala P, et al. Signs of β-cell autoimmunity in nondiabetic schoolchildren: a comparison between Russian Karelia with a low incidence of type 1 diabetes and finland with a high incidence rate. Diabetes Care. 2006;30(1):95-100.  doi: 10.2337/dc06-0711.
  28. Pontoglio M, Prié D, Cheret C, et al. HNF1α controls renal glucose reabsorption in mouse and man. EMBO Reports. 2000;1(4):359-365.  doi:10.1093/embo-reports/kvd071.
  29. Stride A, Ellard S, Clark P, et al.  Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1 mutation carriers. Diabetes Care. 2005;28(7):1751-1756. doi: 10.2337/diacare.28.7.1751.

Close metadata

Contact the author
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.

Email Confirmation

An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.

Email Confirmation

Contact us
If you have any questions, complaints or suggestions, please use this feedback form.
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.
Submit Application

You can become an author of one of our magazines, send a request and we will consider it in during the day.

Name
Phone
E-mail
Message
Login
Registration
E-mail
Password
Forgot Password?

Log in to the site using your account in one of the services

Password recovery
E-mail
Login
Register

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.