胰腺β细胞葡萄糖激酶基因突变致高胰岛素血症低血糖和新生儿糖尿病。
Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.
机构信息
Clinical and Molecular Genetics Unit, The Developmental Endocrinology Research Group, Institute of Child Health, Hospital for Children NHS Trust, University College London, Great Ormond Street, London, UK.
出版信息
Rev Endocr Metab Disord. 2010 Sep;11(3):179-83. doi: 10.1007/s11154-010-9147-z.
Glucokinase is a key enzyme involved in regulating insulin secretion from the pancreatic ß-cell. The unique role of glucokinase in human glucose physiology is illustrated by the fact that genetic mutations in glucokinase can either cause hyperglycaemia or hypoglycaemia. Heterozygous inactivating mutations in glucokinase cause maturity-onset diabetes of the young (MODY), homozygous inactivating in glucokinase mutations result in permanent neonatal diabetes whereas heterozygous activating glucokinase mutations cause hyperinsulinaemic hypoglycaemia.
葡萄糖激酶是参与调节胰岛β细胞胰岛素分泌的关键酶。葡萄糖激酶在人类葡萄糖生理中的独特作用表现在，葡萄糖激酶的基因突变既可以导致高血糖，也可以导致低血糖。葡萄糖激酶的杂合失活突变导致青年发病的成年型糖尿病（MODY），葡萄糖激酶的纯合失活突变导致永久性新生儿糖尿病，而杂合激活葡萄糖激酶突变导致高胰岛素血症性低血糖。
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