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Updated: Oct 24, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
[Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Apropos a case]
J Biarnés1, A Barrientos, W Ricart
1Unidad de Endocrinología, Hospital Universitari de Girona Doctor Josep Trueta. hosptrueta@comgir.com
Abstract:
The mitochondrial A3243G mutation of the tRNA(Leu) has been described in pedigrees with maternally inherited diabetes mellitus and deafness. Ten diabetic patients with sensorineural deafness were studied. Polymerase chain reaction and enzyme restriction analysis with Apa I were performed. The mutation was found in heteroplasmy in only one patient (1/10). She was a 43-years-old woman with maternally inherited diabetes and deafness since she was 29. The association of sensorineural deafness and maternal inherited diabetes are the clues to suspect this subtype of diabetes.
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