A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2

Diabetes Research and Clinical Practice

Volumn 87, Issue 3, 2010, Pages

  Loomba Albrecht, Lindsey A ^a   Jame, Maryam ^a   Bremer, Andrew A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Glucokinase; MODY2; Sulfonylurea

Indexed keywords

C PEPTIDE; GLIMEPIRIDE; GLUCOKINASE; GLUCOSE; HEMOGLOBIN A1C; INSULIN; INSULIN GLARGINE; SULFONYLUREA;

ADOLESCENT; ARTICLE; AUTOIMMUNE DISEASE; CASE REPORT; CLINICAL FEATURE; GENE MUTATION; GENETIC ANALYSIS; GLUCOSE BLOOD LEVEL; HEMOGLOBIN BLOOD LEVEL; HORMONE BLOOD LEVEL; HUMAN; INTRON; MALE; MATURITY ONSET DIABETES MELLITUS; NON INSULIN DEPENDENT DIABETES MELLITUS; ORAL GLUCOSE TOLERANCE TEST;

ADOLESCENT; AREA UNDER CURVE; BLOOD GLUCOSE; C-PEPTIDE; CHILD, PRESCHOOL; DIABETES MELLITUS, TYPE 2; GENETIC PREDISPOSITION TO DISEASE; GLUCOKINASE; GLUCOSE TOLERANCE TEST; HUMANS; HYPOGLYCEMIC AGENTS; MALE; MUTATION; SULFONYLUREA COMPOUNDS;

EID: 77649178668     PISSN: 01688227     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.diabres.2009.11.013     Document Type: Article

References (10)

1. Stoffel M., Froguel P., Takeda J., Zouali H., Vionnet N., Nishi S., et al. Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. Proc. Natl. Acad. Sci. U.S.A. 89 (1992) 7698-7702
2. Byrne M.M., Sturis J., Clemént K., Vionnet N., Pueyo M.E., Stoffel M., et al. Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J. Clin. Invest. 93 (1994) 1120-1130
3. Massa O., Meschi F., Cuesta-Munoz A., Caumo A., Cerutti F., Toni S., et al. High prevalence of glucokinase mutations in Italian children with MODY influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP). Diabetologia 44 (2001) 898-905
4. Ng M.C., Cockburn B.N., Linder T.H., Yeung V.T., Chow C.C., So W.Y., et al. Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY. Diabet. Med. 16 (1999) 956-963
5. Velho G., Petersen K.F., Perseghin G., Hwang J.H., Rothman D.L., Pueyo M.E., et al. Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects. J. Clin. Invest. 98 (1996) 1755-1761
6. Gat-Yablonksi G., Shalitin S., and Phillip M. Maturity onset diabetes of the young-review. Pediatr. Endocrinol. Rev. 3 (2006) 513-520
7. Vaxillaire M., and Froguel P. Mongenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. Endocr. Rev. 29 (2008) 254-264
8. Estalella I., Garcia-Gimeno M.A., Marina A., Castaño L., and Sanz P. Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients. J. Hum. Genet. 53 (2008) 460-466
9. Pertea M., Lin X., and Salzberg S.L. GeneSplicer: a new computational method for splice site prediction. Nucleic Acids Res. 29 (2001) 1185-1190
10. Estalella I., Rica I., Perez de Nanclares G., Bilbao J.R., Vazquez J.A., San Pedro J.I., et al. Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. Clin. Endocrinol. (Oxf.) 67 (2007) 538-546