Leber hereditary optic neuropathy in the population of Serbia
Само за регистроване кориснике
2014
Аутори
Jančić, JasnaDejanović, Ivana
Samardzić, Janko
Radovanović, Saša M.
Pepić, Ana
Kosanovic-Jaković, Natalija
Cetković, Mila
Kostić, Vladimir S.
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Background: Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. However, few countries have published their population-based findings related to this multisystemic disease. The aim: In order to get a better insight into the epidemiological and clinical picture of this maternally inherited disorder, we performed the first population-based clinical and molecular-genetic study of LHON in the Serbian population. Methods: Prospective study included patients who were diagnosed with LHON after detailed medical examination and molecular-genetic confirmation. Results: We identified 41 individuals from 12 genealogically unrelated families, carrying one of the three "primary" mitochondrial (mt) DNA point mutations associated with LHON. Fourteen of them were clinically affected, giving a minimum point prevalence of 1.9 per 1 000 000. The minimum point prevalence for mtDNA LHON mutations was 5.2 per 1 000 000. Male to female ratio was 6:1. Only one affected patient h...arboured mutant mtDNA in heteroplasmic condition. All patients were presented with common clinical findings. Conclusion: We observed significantly lower prevalence and higher gender ratio than expected. However, frequencies of primary mutations, incidence of heteroplasmy and clinical findings are in accordance with other studies in Caucasoid populations. Our results might be a consequence of poor recognition and misdiagnosis due to lack of diagnostic possibilities of the entity in different region of our country or less likely be in part due to specific haplotype background of Serbian population which should be further investigated.
Кључне речи:
Mitochondrial disease / Prevalence / Primary mutations / Clinical pictureИзвор:
European Journal of Paediatric Neurology, 2014, 18, 3, 354-359Издавач:
- Elsevier Sci Ltd, Oxford
DOI: 10.1016/j.ejpn.2014.01.005
ISSN: 1090-3798
PubMed: 24508359
WoS: 000336695500015
Scopus: 2-s2.0-84900321308
Институција/група
Institut za medicinska istraživanjaTY - JOUR AU - Jančić, Jasna AU - Dejanović, Ivana AU - Samardzić, Janko AU - Radovanović, Saša M. AU - Pepić, Ana AU - Kosanovic-Jaković, Natalija AU - Cetković, Mila AU - Kostić, Vladimir S. PY - 2014 UR - http://rimi.imi.bg.ac.rs/handle/123456789/542 AB - Background: Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. However, few countries have published their population-based findings related to this multisystemic disease. The aim: In order to get a better insight into the epidemiological and clinical picture of this maternally inherited disorder, we performed the first population-based clinical and molecular-genetic study of LHON in the Serbian population. Methods: Prospective study included patients who were diagnosed with LHON after detailed medical examination and molecular-genetic confirmation. Results: We identified 41 individuals from 12 genealogically unrelated families, carrying one of the three "primary" mitochondrial (mt) DNA point mutations associated with LHON. Fourteen of them were clinically affected, giving a minimum point prevalence of 1.9 per 1 000 000. The minimum point prevalence for mtDNA LHON mutations was 5.2 per 1 000 000. Male to female ratio was 6:1. Only one affected patient harboured mutant mtDNA in heteroplasmic condition. All patients were presented with common clinical findings. Conclusion: We observed significantly lower prevalence and higher gender ratio than expected. However, frequencies of primary mutations, incidence of heteroplasmy and clinical findings are in accordance with other studies in Caucasoid populations. Our results might be a consequence of poor recognition and misdiagnosis due to lack of diagnostic possibilities of the entity in different region of our country or less likely be in part due to specific haplotype background of Serbian population which should be further investigated. PB - Elsevier Sci Ltd, Oxford T2 - European Journal of Paediatric Neurology T1 - Leber hereditary optic neuropathy in the population of Serbia EP - 359 IS - 3 SP - 354 VL - 18 DO - 10.1016/j.ejpn.2014.01.005 ER -
@article{ author = "Jančić, Jasna and Dejanović, Ivana and Samardzić, Janko and Radovanović, Saša M. and Pepić, Ana and Kosanovic-Jaković, Natalija and Cetković, Mila and Kostić, Vladimir S.", year = "2014", abstract = "Background: Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. However, few countries have published their population-based findings related to this multisystemic disease. The aim: In order to get a better insight into the epidemiological and clinical picture of this maternally inherited disorder, we performed the first population-based clinical and molecular-genetic study of LHON in the Serbian population. Methods: Prospective study included patients who were diagnosed with LHON after detailed medical examination and molecular-genetic confirmation. Results: We identified 41 individuals from 12 genealogically unrelated families, carrying one of the three "primary" mitochondrial (mt) DNA point mutations associated with LHON. Fourteen of them were clinically affected, giving a minimum point prevalence of 1.9 per 1 000 000. The minimum point prevalence for mtDNA LHON mutations was 5.2 per 1 000 000. Male to female ratio was 6:1. Only one affected patient harboured mutant mtDNA in heteroplasmic condition. All patients were presented with common clinical findings. Conclusion: We observed significantly lower prevalence and higher gender ratio than expected. However, frequencies of primary mutations, incidence of heteroplasmy and clinical findings are in accordance with other studies in Caucasoid populations. Our results might be a consequence of poor recognition and misdiagnosis due to lack of diagnostic possibilities of the entity in different region of our country or less likely be in part due to specific haplotype background of Serbian population which should be further investigated.", publisher = "Elsevier Sci Ltd, Oxford", journal = "European Journal of Paediatric Neurology", title = "Leber hereditary optic neuropathy in the population of Serbia", pages = "359-354", number = "3", volume = "18", doi = "10.1016/j.ejpn.2014.01.005" }
Jančić, J., Dejanović, I., Samardzić, J., Radovanović, S. M., Pepić, A., Kosanovic-Jaković, N., Cetković, M.,& Kostić, V. S.. (2014). Leber hereditary optic neuropathy in the population of Serbia. in European Journal of Paediatric Neurology Elsevier Sci Ltd, Oxford., 18(3), 354-359. https://doi.org/10.1016/j.ejpn.2014.01.005
Jančić J, Dejanović I, Samardzić J, Radovanović SM, Pepić A, Kosanovic-Jaković N, Cetković M, Kostić VS. Leber hereditary optic neuropathy in the population of Serbia. in European Journal of Paediatric Neurology. 2014;18(3):354-359. doi:10.1016/j.ejpn.2014.01.005 .
Jančić, Jasna, Dejanović, Ivana, Samardzić, Janko, Radovanović, Saša M., Pepić, Ana, Kosanovic-Jaković, Natalija, Cetković, Mila, Kostić, Vladimir S., "Leber hereditary optic neuropathy in the population of Serbia" in European Journal of Paediatric Neurology, 18, no. 3 (2014):354-359, https://doi.org/10.1016/j.ejpn.2014.01.005 . .