Mitochondrial genome variation in male LHON patients with the m.11778G   & gt;  A mutation

In this study, we use next generation sequencing to investigate the role of whole mtDNA variation in male Polish patients with LHON and m.11778G >  A, the most frequent LHON mutation. We present a possible association between mtDNA haplogroup K and variants in its background, a combination of m.3480A >  G, m.9055G >  A, m.11299 T >  C and m.14167C >  T, and LHON mutation. These variants may have a negative effect on m.11778G >  A increasing its penetrance and the risk of LHON in the Polish population. Surprisingly, we did not observe associations previously reported for m.11778G >  A and LHON in European populations, particularly for haplogroup J as a risk factor, implying that mtDNA variation is much more complex. Our results indicate possible contribution of novel combination of mtDNA genetic factors to the LHON phenotype.
Source: Metabolic Brain Disease - Category: Neurology Source Type: research