Results of Mitochondrial DNA Sequence Analysis in Patients with Clinically Diagnosed Leber's Hereditary Optic Neuropathy

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridEsgin, Haluk/0000-0002-6611-6132
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidOzal, Sadık Altan/B-5123-2019
dc.authorwosidEsgin, Haluk/H-6460-2013
dc.contributor.authorGurkan, Hakan
dc.contributor.authorOzal, Sadik Altan
dc.contributor.authorEsgin, Haluk
dc.date.accessioned2024-06-12T11:07:36Z
dc.date.available2024-06-12T11:07:36Z
dc.date.issued2012
dc.departmentTrakya Üniversitesien_US
dc.description.abstractObjective: 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.en_US
dc.identifier.doi10.5152/balkanmedj.2012.015
dc.identifier.endpage309en_US
dc.identifier.issn2146-3123
dc.identifier.issn2146-3131
dc.identifier.issue3en_US
dc.identifier.pmid25207020en_US
dc.identifier.scopus2-s2.0-84866662933en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage306en_US
dc.identifier.urihttps://doi.org/10.5152/balkanmedj.2012.015
dc.identifier.urihttps://hdl.handle.net/20.500.14551/22089
dc.identifier.volume29en_US
dc.identifier.wosWOS:000315506200016en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofBalkan Medical Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectLeber's Hereditary Optic Neuropathyen_US
dc.subjectFamilial Optic Atrophyen_US
dc.subjectMitochondrial DNAen_US
dc.subjectMitochondrial DNA Mutationsen_US
dc.subjectSingle Nucleotide Polymorphismen_US
dc.subjectMutationen_US
dc.subjectHaplogroupsen_US
dc.subjectVarianten_US
dc.titleResults of Mitochondrial DNA Sequence Analysis in Patients with Clinically Diagnosed Leber's Hereditary Optic Neuropathyen_US
dc.typeArticleen_US

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