Molecular genetics of maturity-onset diabetes of the young

被引：77

作者：

Froguel, P

Velho, G

机构：

[1] Inst Pasteur, Inst Biol, CNRS, F-59019 Lille, France

[2] Hop St Vincent de Paul, INSERM, U342, F-75674 Paris, France

来源：

TRENDS IN ENDOCRINOLOGY AND METABOLISM | 1999年 / 10卷 / 04期

关键词：

D O I：

10.1016/S1043-2760(98)00134-9

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of Type 2 diabetes characterized by early onset, autosomal dominant inheritance and primary, defects in insulin secretion. To date, five proteins have been identified whose genetic absence or impairment causes MODE: the enzyme glucokinase (GCK/MODY2) and four transcription factors: hepatocyte nuclear factor 4 alpha (HNF-4 alpha/MODY1), HNF-1 alpha/MODY3, insulin promoter factor 1 (IPF-1/MODY4) and HNF-1 beta/MODY5. Additional MODY genes remain to be identified.

引用

页码：142 / 146

页数：5

共 48 条

[1] GENE FOR NON-INSULIN-DEPENDENT DIABETES-MELLITUS (MATURITY-ONSET DIABETES OF THE YOUNG SUBTYPE) IS LINKED TO DNA POLYMORPHISM ON HUMAN CHROMOSOME-20Q [J].

BELL, GI ;

XIANG, KS ;

NEWMAN, MV ;

WU, SH ;

WRIGHT, LG ;

FAJANS, SS ;

SPIELMAN, RS ;

COX, NJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (04) :1484-1488

[2]

BLANCHE H, 1997, DIABETE METABOLIS S1, V23, P29

[3]

Boutin P, 1999, DIABETOLOGIA, V42, P380

[4] An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1 alpha gene (maturity-onset diabetes of the young) [J].

Boutin, P ;

Chevre, JC ;

Hani, EH ;

Gomis, R ;

Pardini, VC ;

Guillausseau, PJ ;

Vaxillaire, M ;

Velho, G ;

Froguel, P .

DIABETES, 1997, 46 (12) :2108-2109

[5] A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young [J].

Bulman, MP ;

Dronsfield, MJ ;

Frayling, T ;

Appleton, M ;

Bain, SC ;

Ellard, S ;

Hattersley, AT .

DIABETOLOGIA, 1997, 40 (07) :859-862

[6] Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12 [J].

Byrne, MM ;

Sturis, J ;

Menzel, S ;

Yamagata, K ;

Fajans, SS ;

Dronsfield, MJ ;

Bain, SC ;

Hattersley, AT ;

Velho, G ;

Froguel, P ;

Bell, GI ;

Polonsky, KS .

DIABETES, 1996, 45 (11) :1503-1510

[7] ALTERED INSULIN SECRETORY RESPONSES TO GLUCOSE IN SUBJECTS WITH A MUTATION IN THE MODY1 GENE ON CHROMOSOME-20 [J].

BYRNE, MM ;

STURIS, J ;

FAJANS, SS ;

ORTIZ, FJ ;

STOLTZ, A ;

STOFFEL, M ;

SMITH, MJ ;

BELL, GI ;

HALTER, JB ;

POLONSKY, KS .

DIABETES, 1995, 44 (06) :699-704

[8] INSULIN SECRETORY ABNORMALITIES IN SUBJECTS WITH HYPERGLYCEMIA DUE TO GLUCOKINASE MUTATIONS [J].

BYRNE, MM ;

STURIS, J ;

CLEMENT, K ;

VIONNET, N ;

PUEYO, ME ;

STOFFEL, L ;

TAKEDA, J ;

PASSA, P ;

COHEN, D ;

BELL, GI ;

VELHO, G ;

FROGUEL, P ;

POLONSKY, KS .

JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (03) :1120-1130

[9]

Chevre J. C., 1997, Diabetologia, V40, pA157

[10] Mutation screening in 18 Caucasian families suggest the existence of other MODY genes [J].

Chèvre, JC ;

Hani, EH ;

Boutin, P ;

Vaxillaire, M ;

Blanché, H ;

Vionnet, N ;

Pardini, VC ;

Timsit, J ;

Larger, E ;

Charpentier, G ;

Beckers, D ;

Maes, M ;

Bellanné-Chantelot, C ;

Velho, G ;

Froguel, P .

DIABETOLOGIA, 1998, 41 (09) :1017-1023

← 1 2 3 4 5 →