Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion

Marco Crimi, Roberto Del Bo, Sara Galbiati, Monica Sciacco, Andreina Bordoni, Nereo Bresolin, Giacomo Pietro Comi

Research output: Contribution to journalArticle

Abstract

Mitochondrial (mt)DNA alterations cause cellular energy failure and respiratory chain dysfunction. Single large-scale rearrangements represent the most common mtDNA mutations and are responsible for very variable clinical manifestations. Here, we show an increased frequency of the A12308G substitution, a common polymorphism used to define the European mtDNA haplogroup U, in mitochondrial patients carrying mtDNA single macrodeletion. In this group of patients, A12308G substitution is associated with a higher relative risk of developing pigmentary retinal degeneration, short stature, dysphasia-dysarthria and cardiac conduction defects. MtDNA haplotype might modulate the clinical expression of mitochondrial encephalomyopathies due to mtDNA macrodeletions.

Original languageEnglish
Pages (from-to)896-898
Number of pages3
JournalEuropean Journal of Human Genetics
Volume11
Issue number11
DOIs
Publication statusPublished - Nov 2003

Keywords

  • Haplotype
  • Macrodeletion
  • Mitochondrial DNA

ASJC Scopus subject areas

  • Genetics(clinical)

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