Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion
Articolo
Data di Pubblicazione:
2003
Citazione:
Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion / M. Crimi, R. Del Bo, S. Galbiati, M. Sciacco, A. Bordoni, N. Bresolin, G. Comi. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - 11:11(2003), pp. 896-898.
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
mitochondrial DNA; macrodeletion; haplotype
Elenco autori:
M. Crimi, R. Del Bo, S. Galbiati, M. Sciacco, A. Bordoni, N. Bresolin, G. Comi
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