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- Title
Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.
- Authors
Crimi, Marco; Del Bo, Roberto; Galbiati, Sara; Sciacco, Monica; Bordoni, Andreina; Bresolin, Nereo; Comi, Giacomo Pietro
- 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.European Journal of Human Genetics (2003) 11, 896-898. doi:10.1038/sj.ejhg.5201056
- Subjects
GENETIC polymorphisms; MITOCHONDRIAL DNA
- Publication
European Journal of Human Genetics, 2003, Vol 11, Issue 11, p896
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201056