Analysis of mitochondrial DNA sequence variations in type 2 diabetes patients characterized for haplogroup affiliation

Antonella Cormio, Francesco Milella, Maurizio Marra, Maria Pala, Angela Maria Serena Lezza, Anna Rita Bonfigli, Claudio Franceschi, Palmiro Cantatore, Maria Nicola Gadaleta

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The knowledge of the haplogroups of the analyzed subjects allows to prevent errors in the analysis of the association between mtDNA variations and some pathologies like diabetes. In this paper a cohort of type 2 diabetic Italian patients with known mitochondrial genetic background (haplogroup) were investigated for the presence in the blood of the 3243A>G mutation and other variants of close to tRNALeu(UUR) gene (16S/ND1 region) of mitochondrial DNA (mtDNA). The 3243A>G mutation was present in 0.4% of analyzed patients in agreement with the reported frequencies of such mutation in other European groups. This result suggests a limited role for the 3243A>G mutation in the pathogenesis of diabetes also in the Italian population. In the 16S/ND1 region 15 base changes were found. The knowledge of the haplogroup of the analyzed individuals allowed to distinguish between haplogroup-specific polymorphisms and variants potentially associated to diabetes.

Original languageEnglish
Title of host publicationHorizons in DNA Research. Volume 1
PublisherNova Science Publishers, Inc.
Pages225-234
Number of pages10
ISBN (Electronic)9781611224986
ISBN (Print)9781608769681
Publication statusPublished - 1 Jan 2010
Externally publishedYes

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Cormio, A., Milella, F., Marra, M., Pala, M., Lezza, A. M. S., Bonfigli, A. R., ... Gadaleta, M. N. (2010). Analysis of mitochondrial DNA sequence variations in type 2 diabetes patients characterized for haplogroup affiliation. In Horizons in DNA Research. Volume 1 (pp. 225-234). Nova Science Publishers, Inc..