Open AccessMaturity‐onset diabetes of the young as a model for elucidating the multifactorial origin of type 2 diabetes mellitus
Author(s) -
Horikawa Yukio
Publication year - 2018
Publication title -
journal of diabetes investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.089
H-Index - 50
eISSN - 2040-1124
pISSN - 2040-1116
DOI - 10.1111/jdi.12812
Subject(s) - penetrance , maturity onset diabetes of the young , medicine , diabetes mellitus , type 2 diabetes mellitus , type 2 diabetes , phenotype , age of onset , endocrinology , mutation , genetics , gene , biology , disease
Maturity‐onset diabetes of the young ( MODY ) is a form of diabetes classically characterized as having autosomal dominant inheritance, onset before the age of 25 years in at least one family member and partly preserved pancreatic β‐cell function. The 14 responsible genes are reported to be MODY type 1~14, of which MODY 2 and 3 might be the most common forms. Although MODY is currently classified as diabetes of a single gene defect, it has become clear that mutations in rare MODY s, such as MODY 5 and MODY 6, have small mutagenic effects and low penetrance. In addition, as there are differences in the clinical phenotypes caused by the same mutation even in the same family, other phenotypic modifying factors are thought to exist; MODY could well have characteristics of type 2 diabetes mellitus, which is of multifactorial origin. Here, we outline the effects of genetic and environmental factors on the known phenotypes of MODY , focusing mainly on the examples of MODY 5 and 6, which have low penetrance, as suggestive models for elucidating the multifactorial origin of type 2 diabetes mellitus.