当前位置： SCI文献检索 > EUROPEAN JOURNAL OF ENDOCRINOLOGY期刊下所有文献 > Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families.

Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families.

Abstract：

OBJECTIVE:To investigate the frequencies of the major maturity-onset diabetes of the young (MODY) subtypes in a panel of Spanish families and to assess phenotypic differences in patients with the different subtypes of MODY. METHODS:Forty-eight subjects from twenty families with clinical diagnosis of MODY were studied. They underwent a standardised clinical examination and a 75-g oral glucose tolerance test (OGTT) was performed. Estimations of insulin sensitivity (%S) and insulin secretion capacity (%B) were calculated by the computer-solved homeostasis model assessment (HOMA). Mutations in the coding regions of hepatocyte nuclear factor (HNF)-4alpha/MODY1, glucokinase (GCK/MODY2) and HNF-1alpha/MODY3 genes were investigated by single strand comformation polymorphism and sequencing analysis. RESULTS:Mutations in the GCK and HNF-1alpha genes were observed in 5 (25%) and 7 (35%) families respectively. Novel mutations included R385X, M238fsdelT, V226fsdelTinsAA and S418-7del11 in the GCK gene, and S121fsdelC, V133M, R159Q and V259D in the HNF-1alpha gene. No MODY1 families were found. Subjects which were neither MODY2 nor MODY3 (MODY-X) had a higher fasting glucose than subjects in the other groups. Insulin secretion capacity was similar in the three groups and the insulin sensitivity was decreased in MODY-X subjects. Glucose levels were significantly higher and insulin levels significantly lower, throughout the OGTT, in MODY3 compared with MODY2 subjects. CONCLUSIONS:Mutations in the GCK/MODY2 and HNF-1alpha/MODY3 genes account for the majority of cases in a panel of Spanish MODY families, with MODY3 being the most frequent subtype. The relative frequencies and the clinical characteristics of these MODY subtypes are in agreement with data previously reported in other European populations. MODY-X patients seem to present a heterogeneous clinical profile.

journal_name

Eur J Endocrinol

journal_title

European journal of endocrinology

authors

Costa A,Bescós M,Velho G,Chêvre J,Vidal J,Sesmilo G,Bellanné-Chantelot C,Froguel P,Casamitjana R,Rivera-Fillat F,Gomis R,Conget I

doi

10.1530/eje.0.1420380

subject

Has Abstract

pub_date

2000-04-01 00:00:00

pages

380-6

issue

eissn

0804-4643

issn

1479-683X

pii

1420380

journal_volume

142

pub_type

杂志文章

在线工具

Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families.