Related Experiment Video
Updated: Oct 7, 2026
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
[Analysis of mutations A3243G, C3256T and mitochondrial deletions in 41 diabetic patients]
J Biarnésa1, I Rojas, M Fernández-Castañer
1Departamento de Genética Médica y Molecular. IRO. Hospital Duran i Reynals. Barcelona. endocrino@htrueta.scs.es
Background:
Mutations or deletions of mitochondrial DNA (mtDNA) define a new diabetes subtype.
Patients And Method:
The A3243G and C3256T mutations and mtDNA deletions were studied in 41 diabetic patients with maternally inherited diabetes mellitus or deafness.
Results:
The A3243G mutation was found in one out of forty-one diabetic patients (2.4%). Neither the C3256T mutation nor mtDNA deletions were detected.
Conclusions:
The search of A3243G mutation has to be considered in a diabetic patient with deafness and/or maternal history of diabetes.
