Variations at the H-strand replication origins of mitochondrial DNA and mitochondrial DNA content in the blood of type 2 diabetes patients

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

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Mitochondrial DNA (mtDNA) sequence variation in the segment of the D-loop region encompassing the initiation sites for replication and transcription was analyzed in the blood of 277 Italian type 2 diabetes patients and 277 Italian healthy subjects. Compared with the Cambridge Reference Sequence, diabetic patients show a slightly higher propensity to accumulate base changes in this region, with respect to controls, although no significant association can be established between any of the detected changes and the diabetic condition. Subjects, patients and controls, harbouring base changes at the replication origins (positions 57 and 151) and at position 58 were analyzed for mtDNA content. The mtDNA content increased three-four times only in the diabetic patients bearing the m.151C > T transition, whereas in those bearing the m.58T > C change the mtDNA content doubled, independently of the affiliation haplogroup. This result suggests that the m.151C > T transition and, to a lower extent, the m.58T > C might confer to the blood cells of diabetic patients the capability of increasing their mtDNA content, whereas the same transitions have no effect on control subjects.

LanguageEnglish
Pages547-552
Number of pages6
JournalBiochimica et Biophysica Acta - Bioenergetics
Volume1787
Issue number5
Early online date22 Jan 2009
DOIs
Publication statusPublished - 1 May 2009
Externally publishedYes

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Replication Origin
Medical problems
Mitochondrial DNA
Type 2 Diabetes Mellitus
Blood
Bearings (structural)
Transcription Initiation Site
DNA sequences
Transcription
Blood Cells
Healthy Volunteers
Cells

Cite this

Cormio, Antonella ; Milella, Francesco ; Marra, Maurizio ; Pala, Maria ; Lezza, Angela Maria Serena ; Bonfigli, Anna Rita ; Franceschi, Claudio ; Cantatore, Palmiro ; Gadaleta, Maria Nicola. / Variations at the H-strand replication origins of mitochondrial DNA and mitochondrial DNA content in the blood of type 2 diabetes patients. In: Biochimica et Biophysica Acta - Bioenergetics. 2009 ; Vol. 1787, No. 5. pp. 547-552.
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Variations at the H-strand replication origins of mitochondrial DNA and mitochondrial DNA content in the blood of type 2 diabetes patients. / Cormio, Antonella; Milella, Francesco; Marra, Maurizio; Pala, Maria; Lezza, Angela Maria Serena; Bonfigli, Anna Rita; Franceschi, Claudio; Cantatore, Palmiro; Gadaleta, Maria Nicola.

In: Biochimica et Biophysica Acta - Bioenergetics, Vol. 1787, No. 5, 01.05.2009, p. 547-552.

Research output: Contribution to journalArticle

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AU - Lezza, Angela Maria Serena

AU - Bonfigli, Anna Rita

AU - Franceschi, Claudio

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AU - Gadaleta, Maria Nicola

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