Diabetes Mellitus do Tipo MODY
It is estimated that close to 5% of the individuals classified as having type 2 diabetes mellitus (DM) and about 10% of those considered type 1 DM (previously categorized as juvenile type) are actual carriers of a MODY mutation. In this form of DM, there is evident co-segregation of some mutations a...
| Authors: | , , |
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| Format: | article |
| Status: | Published version |
| Publication Date: | 2002 |
| Country: | Brasil |
| Institution: | Universidade Federal de São Paulo (UNIFESP) |
| Repository: | Repositório Institucional da UNIFESP |
| Language: | Portuguese |
| OAI Identifier: | oai:repositorio.unifesp.br:11600/1408 |
| Online Access: | http://dx.doi.org/10.1590/S0004-27302002000200012 http://repositorio.unifesp.br/handle/11600/1408 |
| Access Level: | Open access |
| Keyword: | Diabetes mellitus Genetics MODY Glucokinase Transcription factors Genética Glicoquinase Fatores de transcrição |
| Summary: | It is estimated that close to 5% of the individuals classified as having type 2 diabetes mellitus (DM) and about 10% of those considered type 1 DM (previously categorized as juvenile type) are actual carriers of a MODY mutation. In this form of DM, there is evident co-segregation of some mutations and the advent of hyperglycemia, this fact having been reproduced by the study of several families of different populations. Its main characteristic is being one of the few causes of DM in which the transmission of the genetic susceptibility is due to an autossomical dominant inheritance, making part of the group classified as monogenic DM, where the other members are very rare. Mutations occurring in MODY genes, even in the heterozygous form, lead to a profound phenotypic impact (high penetrance), in that 95% of the individual carriers of a MODY mutation will be diabetic or will have altered glicemic metabolism before the age of 55 years. In this paper we approach this form of DM, emphasizing its most relevant clinical and genetic characteristics. The systematic search for MODY mutations is beginning to take place regularly in many countries, and there is a tendency to add this diagnostic tool to the routine exams in the practice of diabetology. |
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