Format

Send to

Choose Destination
Clin Endocrinol (Oxf). 2000 May;52(5):557-64.

Mitochondrial DNA A3243G mutation in patients with early- or late-onset type 2 diabetes mellitus in Hong Kong Chinese.

Author information

1
Department of Medicine, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong. maggieng@cuhk.edu.hk

Abstract

BACKGROUND AND OBJECTIVES:

The mitochondrial DNA A to G mutation at nucleotide 3243 (mt3243) is associated with a subtype of diabetes characterized by maternal transmission and deafness. We have previously reported a 2.7% prevalence of this mutation in a cohort of young patients with either type 1 or type 2 diabetes. In this study, we aimed to confirm this finding by examining for the prevalence of this mutation in a large-scale study.

SUBJECTS AND METHODS:

Nine hundred and six unrelated Chinese patients with type 2 diabetes and 213 nondiabetic controls were studied. The presence of mt3243 mutation was determined by polymerase chain reaction amplification and ApaI digestion.

RESULTS:

This mutation was found in four of 133 (3.0%) patients with early onset (</= 40 years) diabetes who also had a positive maternal family history, and in one of 348 (0.3%) patients with late-onset (> 40 years) diabetes and no family history. Basal pancreatic beta-cell function, as assessed by fasting plasma C-peptide, was variable amongst mutation carriers, and did not correlate with the level of heteroplasmy of mutation.

CONCLUSIONS:

In agreement with most studies, our results suggest that despite the high prevalence of positive maternal family history of diabetes amongst our type 2 diabetic patients, mt3243 mutation was not a major cause of diabetes in either early- or late-onset diabetic patients in Hong Kong. The role of other genetic, environmental and intrauterine factors needs further investigation.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center