摘要青少年发病的成人型糖尿病(maturity-onset diabetes of the young,MODY)是由于单基因突变导致胰岛B细胞功能缺陷所致,多呈常染色体显性遗传。MODY约占糖尿病的1%~3%,是一种较为少见的特殊类型糖尿病,MODY与其他类型糖尿病的临床特征存在重叠,仅依靠临床特征,确诊率偏低,常误诊为1型、2型或妊娠糖尿病([1])。
1Sagen JV, Odili S, Bjorkhaug L, et al. From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation . Diabetes, 2006,55 (6) : 1713-1722.
2Futamura M, Hosaka H, Kadotani A, et al. An allosteric activator of glucokinase impairs the interaction of glucokinase and glucokinase regulatory protein and regulates glucose metabolism. J Biol Chem, 2006, 281 (49) :37668-37674.
3Froguel PH, Vaxillaire M, Sun F, et al. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature, 1992,356 (6365) : 162-164.
5Alvarez E, Roncero I, Chowen JA, et al. Evidence that glucokinase regulatory protein is expressed and interacts with glucokinase in rat brain. J Neurochem, 2002 , 80 ( 1 ) : 45- 53.
6Christesen HB, Jacobsen BB, Odili S, et al. The second activating glucokinase mutation (A456V) : implications for glucose homeostasis and diabetes therapy . Diabetes, 2002, 51 (4) :1240-1246.
7Cuesta-Munoz AL, Huopio H, Otonkoski T, et al. Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. Diabetes, 2004, 53 (8) :2164-2168.
8Gloyn AL, Noordam K, Willemsen MA, et al. Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. Diabetes, 2003, 52(9) :2433-2440.
9Njolstad PR, Sovik O, Cuesta-Munoz A, et al. Neonatal diabetes mellitus due to complete glucokinase deficiency . N Engl J Med, 2001, 344(21) :1588-1592.
10Njolstad PR, Sagen JV, Bjorkhaug L, et al. Permanent neonatal diabetes mellitus caused by glucokinase deficiency:inborn error of the glucose-insulin signaling pathway . Diabetes,2003, 52( 11 ) :2854-2860.
3Chi A Ma, Yuan Zhang, Michael A Weinreich, Jonathan J Lyons, Celeste G Nelson, Thomas DiMaggio, Kelly D Stone, Joshua D Milner,Jeffrey R Stinson, Elisa Ruffo, Batsukh Dorjbal, Swadhinya Arjunaraja, Kelsey Voss, Andrew L Snow,Jordan K Abbott, Pia J Hauk, Paul R Reynolds, Erwin W Gelfand,Elisa Ruffo,Salomé Glauzy, Natsuko Yamakawa, Eric Meffre,Jennifer Stoddard, Julie Niemela, Sergio D Rosenzweig,Yu Zhang, Helen F Matthews,Joshua J McElwee,Nina Jones,Alejandro Palma, Matías Oleastro, Emma Prieto, Andrea R Bernasconi, Geronimo Dubra, Silvia Danielian, Jonathan Zaiat, Marcelo A Marti,Brian Kim,Megan A Cooper,Neil Romberg.Nat Genet:单基因突变导致过敏性皮炎的发生[J].现代生物医学进展,2017,17(27). 被引量:3