Analysis of secondary mtDNA mutations in families with Leber’s hereditary optic neuropathy: four novel variants and their association with clinical presentation

In this study we analyzed the whole mtDNA sequence in six LHON families from Serbian population. The mtDNA sequencing was performed by Sanger’s method and various bioinformatic tools were used for analysis of detected mutations. LHON patients carry all three (m.3460G>A, m.11778G>A and m.14484T>C) primary mutations, together with numerous secondary mtDNA mutations. Four novel mutations (m.4516G>A, m.8779C>T, m.13138G>A and m.15986insG) in four different families were discovered. The m.8779C>T and m.13138G>A mutations could have a potential influence on LHON symptoms, but the issue of effect of secondary mtDNA mutations in LHON patients needs to be better clarified in future studies.
Source: Mitochondrion - Category: Biochemistry Source Type: research