Department of Diabetes and Endocrinology, Graduate School of Medicine, Gifu University, Gifu, Japan.
J Diabetes Investig. 2018 Jul;9(4):704-712. doi: 10.1111/jdi.12812. Epub 2018 Mar 23.
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 MODYs, 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.
青年起病的成年型糖尿病（MODY）是一种经典的糖尿病形式，其特征为常染色体显性遗传，至少一名家族成员在 25 岁之前发病，且部分保留胰岛β细胞功能。已报道的 14 个致病基因分别为 MODY 1~14 型，其中 MODY 2 型和 3 型可能是最常见的类型。尽管 MODY 目前被归类为单一基因突变导致的糖尿病，但已明确，罕见 MODY 突变（如 MODY 5 和 MODY 6）的突变具有较小的诱变作用和低外显率。此外，由于同一突变在同一家庭中引起的临床表型存在差异，因此认为还存在其他表型修饰因子；MODY 可能具有 2 型糖尿病的特征，后者是多因素起源的。在此，我们概述了遗传和环境因素对已知 MODY 表型的影响，主要集中在低外显率的 MODY 5 和 6 作为提示模型的例子上，以阐明 2 型糖尿病的多因素起源。
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