Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population

Purpose To define the prevalence of a panel of mitochondrial DNA (mtDNA) mu tations associated with Leber's hereditary optic neuropathy (LHON) in the T urkish LHON population. LHON-associated mtDNA mutations have been found in LHON patients from around the world, but the Turkish LHON population has no t been studied. Methods Thirty-two Turkish patients were defined clinically as having LHON on the basis of painless, subacute, bilateral optic neuropathy and the excl usion of other causes of subacute optic neuropathy. mtDNA was extracted fro m blood of the 32 probands and assayed for a panel of primary and secondary LHON-associated mtDNA mutations by polymerase chain reaction (PCR)-based m ethods. We studied three well-known LHON-associated primary mutations (at n ucleotide positions 11778, 3460 and 14484) and one common secondary mutatio n (at nucleotide 15257) in all 32 probands. In addition to these mutations, 18 of the 32 probands were tested for the Complex IV, COX III gene, LHON a ssociated 9804 and 9438 mutations and secondary LHON mutations at nucleotid e positions 3394, 4160, 4216, 4917, 5244, 7444, 7706, 13708, 13730 and 1581 2. Results Among the 32 probands tested for four common LHON mutations, 3 carr ied the 14484 mutation, 1 carried the 11778 mutation, 1 carried the 3460 mu tation and 1 carried the 15257 mutation. Among the 18 LHON patients who tes ted for additional mutations, 1 proband harboured the 9804 mutation and 4 c arried the secondary mutations at nucleotide positions 4216, 4917 and 13708 . Conclusion The results of mtDNA analysis of the Turkish LHON patients appea r to be different from those of previous reports.