Vaxillaire Martine, Froguel Philippe
CNRS UMR8090 Unit, Institute of Biology and Pasteur Institute of Lille, 1 rue du Professeur Calmette BP 245 59019, Lille, France.
Endocrinol Metab Clin North Am. 2006 Jun;35(2):371-84, x. doi: 10.1016/j.ecl.2006.02.009.
Most valuable breakthroughs in the genetics of type 2 diabetes mellitus have arisen from familial linkage analysis of maturity-onset diabetes of the young, an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin-secretion defects. Despite its low prevalence, MODY is not a single entity but presents genetic, metabolic, and clinical heterogeneity. MODY can result from mutations in at least six different genes;one encodes the glycolytic enzyme glucokinase, which is an important glucose sensor, whereas all the others encode transcription factors that participate in a regulatory network essential for adult beta cell function. Additional genes, yet unidentified, may explain the other MODY cases unlinked to a mutation in the known genes.
2型糖尿病遗传学领域最有价值的突破来自于青年发病的成年型糖尿病（MODY）的家族连锁分析，这是一种常染色体显性遗传形式的糖尿病，通常发生在25岁之前，由原发性胰岛素分泌缺陷引起。尽管MODY的患病率较低，但它并非单一疾病，而是呈现出遗传、代谢和临床异质性。MODY可能由至少六种不同基因的突变导致；其中一种基因编码糖酵解酶葡萄糖激酶，它是一种重要的葡萄糖传感器，而其他所有基因均编码转录因子，这些转录因子参与了对成年β细胞功能至关重要的调控网络。尚未确定的其他基因可能解释了与已知基因突变无关的其他MODY病例。
