TY - JOUR
T1 - Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion
AU - Crimi, Marco
AU - Del Bo, Roberto
AU - Galbiati, Sara
AU - Sciacco, Monica
AU - Bordoni, Andreina
AU - Bresolin, Nereo
AU - Comi, Giacomo Pietro
PY - 2003/11
Y1 - 2003/11
N2 - 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.
AB - 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.
KW - Haplotype
KW - Macrodeletion
KW - Mitochondrial DNA
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U2 - 10.1038/sj.ejhg.5201056
DO - 10.1038/sj.ejhg.5201056
M3 - Article
C2 - 14571278
AN - SCOPUS:0242609815
VL - 11
SP - 896
EP - 898
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 11
ER -