Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2016;88(4):117-124.
doi: 10.17116/terarkh2016884117-124.

[Molecular genetics of maturity-onset diabetes of the young]

[Article in Russian]
M I Voevoda  1 , A A Ivanova  2 , E V Shakhtshneider  2 , A K Ovsyannikova  2 , S V Mikhailova  3 , K S Astrakova  2 , S M Voevoda  2 , O D Rymar  2
Affiliations

[Molecular genetics of maturity-onset diabetes of the young]

[Article in Russian]
M I Voevoda et al. Ter Arkh. 2016.

Abstract
in English, Russian

To verify the type of diabetes mellitus (DM) remains an extremely important problem in endocrinology, as along with types 1 and 2 DM there are rarer hereditary types of DM, including maturity-onset diabetes of the young (MODY). The latter is a genetic type of DM, which is characterized by an autosomal dominant inheritance. Eleven types of MODY (MODY 1 to MODY13) are identified; each is associated with mutations in the certain gene: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, KCNJ11 and ABCC8. A molecular genetic testing for suspected MODY is conducted to verify the diagnosis and to define a subtype of MODY, patient management tactics, to predict the outcome of the disease and its complications in relation to the found subtype of MODY. It is also important to seek mutation causing MODY in terms of the early detection of MODY in the first-degree relatives of a proband, appropriate therapy of the disease, and prevention of its complications.

Верификация типа сахарного диабета (СД) остается крайне важным вопросом в эндокринологии, так как наряду с 1-м и 2-м типами СД существуют более редкие наследственные формы СД, в том числе MODY. MODY (maturity onset diabetes of the young) - генетически обусловленная форма СД, характеризующаяся аутосомно-доминантным типом наследования. Выявлено 11 подтипов MODY (MODY1-MODY13), каждый из которых ассоциирован с мутациями в определенном гене: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, KCNJ11 и ABCC8. Молекулярно-генетическое исследование при подозрении на MODY проводится с целью верификации диагноза и определения подтипа MODY, а также для определения врачебной тактики ведения пациента, прогнозирования исхода заболевания и его осложнений в зависимости от выявленного подтипа MODY. Поиск мутации, вызвавшей развитие MODY, также важен с точки зрения раннего выявления MODY у ближайших родственников пробанда и проведения соответствующей терапии заболевания и профилактики его осложнений.

Keywords: genetic β-cell defects; hereditary forms of diabetes mellitus; maturity onset diabetes of the young (MODY); non-type 1 diabetes mellitus of the young.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

Substances

Supplementary concepts

LinkOut - more resources