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.

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.

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

M. Crimi
Primo
;
N. Bresolin
Penultimo
;
G. Comi
2003

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.
mitochondrial DNA; macrodeletion; haplotype
Settore MED/26 - Neurologia
2003
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/425580
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