Whole Mitochondrial Genome Analysis in Serbian Cases of Leber’s Hereditary Optic Neuropathy

Genes

Vesna Djuric¹  FaydaI. Abdel Motaleb²  Dario Potkonjak³  Jasna Jancic³  Marija Brankovic³  Ana Marjanovic³  Ivana Novakovic³  PhepyG. A. Dawod³  Sarlota Mesaros³  VladimirS. Kostic³  Dejan Nikolic³  Janko Samardzic⁴  Milena Jankovic⁵ 

[1] Clinic of Neurology and Psychiatry of Children and Youth, 11000 Belgrade, Serbia;Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Ain Shams University, Cairo 11591, Egypt;Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia;Institute of Pharmacology, Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia;Neurology Clinic, Clinical Center of Serbia, 11000 Belgrade, Serbia;

关键词: Leber’s hereditary optic neuropathy;    mtDNA;    mutations;    haplogroups;   

DOI  :  10.3390/genes11091037

来源: DOAJ

【 摘 要 】

Leber’s hereditary optic neuropathy (LHON) is a maternally inherited disorder that affects central vision in young adults and is typically associated with mitochondrial DNA (mtDNA) mutations. This study is based on a mutational screening of entire mtDNA in eight Serbian probands clinically and genetically diagnosed with LHON and four of their family members, who are asymptomatic mutation carriers. All obtained sequence variants were compared to human mtDNA databases, and their potential pathogenic characteristics were assessed by bioinformatics tools. Mitochondrial haplogroup analysis was performed by MITOMASTER. Our study revealed two well-known primary LHON mutations, m.11778G>A and m.3460G>A, and one rare LHON mutation, m.8836A>G. Various secondary mutations were detected in association with the primary mutations. MITOMASTER analysis showed that the two well-known primary mutations belong to the R haplogroup, while the rare LHON m.8836A>G was detected within the N1b haplogroup. Our results support the need for further studies of genetic background and its role in the penetrance and severity of LHON.

【 授权许可】

Unknown