Novel mitochondrial 16S rRNA mutation, 3200T-->C, associated with adult-onset type 2 diabetes / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 753-758, 2002.
Article
in English
| WPRIM
| ID: wpr-340421
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the role of a potential diabetes-related mitochondrial region, which includes two previously reported mutations, 3243A-->G and 3316G-->A, in Chinese patients with adult-onset type 2 diabetes.</p><p><b>METHODS</b>A total of 277 patients and 241 normal subjects were recruited for the study. Mitochondrial nt 3116 - 3353, which spans the 16S rRNA, tRNA(leu(UUR)) and the NADH dehydrogenase 1 gene, were detected using polymerase chain reaction (PCR), direct DNA sequencing, PCR-restriction fragment length polymorphism and allele-specific PCR. Variants were analyzed by two-tailed Fisher exact test. The function of the variants in 16S rRNA were predicted for minimal free energy secondary structures by RNA folding software mfold version 3.</p><p><b>RESULTS</b>Four homoplasmic nucleotide substitutions were observed, 3200T-->C, 3206C-->T, 3290T-->C and 3316G-->A. Only the 3200T-->C mutation is present in the diabetic population and absent in the control population. No statistically significant associations were found between the other three variants and type 2 diabetes. The 3200T-->C and 3206C-->T nucleotide substitutions located in 16S rRNA are novel variants. The 3200T-->C caused a great alteration in the minimal free energy secondary structure model while the 3206C-->T altered normal 16S rRNA structure little.</p><p><b>CONCLUSIONS</b>The results suggest that the 3200T-->C mutation is linked to the development of type 2 diabetes, but that the other observed mutations are neutral. In contrast to the Japanese studies, the 3316G-->A does not appear to be related to type 2 diabetes.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Restriction Fragment Length
/
DNA, Mitochondrial
/
DNA Mutational Analysis
/
RNA, Ribosomal, 16S
/
Base Sequence
/
Models, Molecular
/
Chemistry
/
Polymerase Chain Reaction
/
Point Mutation
/
Age of Onset
Type of study:
Prognostic study
Limits:
Aged
/
Humans
Language:
English
Journal:
Chinese Medical Journal
Year:
2002
Type:
Article
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