Thomas Rosenberg1, Søren Nørby2, Marianne Schwartz3, Juliette Saillard4, Paulo J Magalhães5, David Leroy6, Erik C Kann7, Morten Duno3. 1. National Eye Clinic Kennedy Center, Glostrup, Denmark 2Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. 2. Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. 3. Department of Clinical Genetics 4062, University Hospital Copenhagen, Copenhagen, Denmark. 4. Agence National de Recherche sur le Sida (ANRS), Paris, France. 5. Department of Biomedical Sciences, University of Padua, Padua, Italy. 6. Centre d'Etude des Transformations des Activités Physiques et Sportives (CETAPS), Faculty of Sports Science, University of Rouen, Rouen, France. 7. National Eye Clinic Kennedy Center, Glostrup, Denmark.
Abstract
PURPOSE: In Denmark, the occurrence of Leber hereditary optic neuropathy (LHON) has continuously been monitored since 1944. We provide here a summary of 70 years of data collection including registered lines and subjects by the end of 2012. METHODS: Affected individuals were identified from a national register of hereditary eye diseases at the National Eye Clinic (NEC), a tertiary low vision rehabilitation center for the entire Danish population. The assembling of LHON pedigrees was based on the reconstruction of published families and newly diagnosed cases from 1980 to 2012 identified in the files of NEC. Genealogic follow-up on the maternal ancestry of all affected individuals was performed to identify a possible relation to an already known maternal line. A full genotypic characterization of the nation-based LHON cohort is provided. RESULTS: Forty different lines were identified. The number of live affected individuals with a verified mitochondrial DNA mutation was 104 on January 1, 2013, which translates to a prevalence rate of 1:54,000 in the Danish population. CONCLUSIONS: Haplogroup distribution as well as mutational spectrum of the Danish LHON cohort do not deviate from those of other European populations. The genealogic follow-up reveals a relatively high turnover among families with approximately 15 newly affected families per century and the dying out of earlier maternal lines.
PURPOSE: In Denmark, the occurrence of Leber hereditary optic neuropathy (LHON) has continuously been monitored since 1944. We provide here a summary of 70 years of data collection including registered lines and subjects by the end of 2012. METHODS: Affected individuals were identified from a national register of hereditary eye diseases at the National Eye Clinic (NEC), a tertiary low vision rehabilitation center for the entire Danish population. The assembling of LHON pedigrees was based on the reconstruction of published families and newly diagnosed cases from 1980 to 2012 identified in the files of NEC. Genealogic follow-up on the maternal ancestry of all affected individuals was performed to identify a possible relation to an already known maternal line. A full genotypic characterization of the nation-based LHON cohort is provided. RESULTS: Forty different lines were identified. The number of live affected individuals with a verified mitochondrial DNA mutation was 104 on January 1, 2013, which translates to a prevalence rate of 1:54,000 in the Danish population. CONCLUSIONS: Haplogroup distribution as well as mutational spectrum of the Danish LHON cohort do not deviate from those of other European populations. The genealogic follow-up reveals a relatively high turnover among families with approximately 15 newly affected families per century and the dying out of earlier maternal lines.
Authors: Elena Starikovskaya; Sofia Shalaurova; Stanislav Dryomov; Azhar Nazhmidenova; Natalia Volodko; Igor Bychkov; Ilia Mazunin; Rem Sukernik Journal: Cells Date: 2019-12-04 Impact factor: 6.600
Authors: Sarah L Stenton; Marketa Tesarova; Natalia L Sheremet; Claudia B Catarino; Valerio Carelli; Elżbieta Ciara; Kathryn Curry; Martin Engvall; Leah R Fleming; Peter Freisinger; Katarzyna Iwanicka-Pronicka; Elżbieta Jurkiewicz; Thomas Klopstock; Mary K Koenig; Hana Kolářová; Bohdan Kousal; Tatiana Krylova; Chiara La Morgia; Lenka Nosková; Dorota Piekutowska-Abramczuk; Sam N Russo; Viktor Stránecký; Iveta Tóthová; Frank Träisk; Holger Prokisch Journal: Brain Date: 2022-06-03 Impact factor: 15.255