ISSN : 2146-3123
E-ISSN : 2146-3131

Results of Mitochondrial DNA Sequence Analysis in Patients with Clinically Diagnosed Leber’s Hereditary Optic Neuropathy
Hakan Gürkan 1, Sadık Altan Özal 2, Haluk Esgin 2
1İstanbul Üniversitesi İstanbul Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı, İstanbul
2Department of Ophtalmology, Faculty of Medicine, Trakya University, Edirne, Turkey
DOI : 10.5152/balkanmedj.2012.015
Pages : 306-309


Objective: To investigate possible mitochondrial DNA (mtDNA) mutations in patients with Leber’s hereditary optic neuropathy (LHON) in order to provide a precise diagnosis and genetic counseling.

Material and Methods: Between 1982 and 2007, ten patients were clinically diagnosed with LHON and six of these patients agreed to be involved in this study. Six healthy individuals were also included as a control group. mtDNA was isolated from peripheral blood samples and polymerase chain reaction and mtDNA sequence analysis were performed.

Results: In one of the six patients, a homoplasmic mutant m.11778G>A mutation was detected. All of the clinically diagnosed LHON patients and the control groups had the m.14212C>T and m.14580G>A single nucleotide polymorphisms (SNPs). The m.11719A>G SNP was detected in three of six patients and four of the controls. Two of the six patients had the m.3197T>C SNP and, in addition, the m.14258G>A SNP was found in one of these two patients, while neither of these mutations were present in the control group.

Conclusion: The clinical diagnosis of LHON could be supported by molecular genetics only in one patient by the detection of one mutation. The m.3197T>C and m.14258G>A SNPs should be considered as potential mtDNA mutations due to the fact that they were detected in the patient group. These mutations should be investigated further in large case groups for suspected gene loci that could lead to optic neuropathy.

Keywords : Leber’s hereditary optic neuropathy, familial optic atrophy, mitochondrial DNA, mitochondrial DNA mutations, single nucleotide polymorphism
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