ǂA ǂ“potential” model for Leber’s hereditary optic neuropathy
Dinko Novosel (Avtor), Vladimir Brajkovic (Avtor), Mojca Simčič (Avtor), Minja Zorc (Avtor), Tanja Švara (Avtor), Karmen Branović-Čakanić (Avtor), Andreja Jungić (Avtor), Betka Logar (Avtor), Vlatka Čubrić Čurik (Avtor), Peter Dovč (Avtor), Ino Čurik (Avtor)

Povzetek

While mitogenome mutations leading to pathological manifestations are rare, more than 200 such mutations have been described in humans. In contrast, pathogenic mitogenome mutations are rare in domestic animals and have not been described at all in cattle. In the small local Slovenian cattle breed Cika, we identified (next-generation sequencing) two cows with the T10432C mitogenome mutation in the ND4L gene, which corresponds to the human T10663C mutation known to cause Leber’s hereditary optic neuropathy (LHON). Pedigree analysis revealed that the cows in which the mutation was identified belong to two different maternal lineages with 217 individual cows born between 1997 and 2020. The identified mutation and its maternal inheritance were confirmed by Sanger sequencing across multiple generations, whereas no single analysis revealed evidence of heteroplasmy. A closer clinical examination of one cow with the T10432C mutation revealed exophthalmos, whereas histopathological examination revealed retinal ablations, subretinal oedema, and haemorrhage. The results of these analyses confirm the presence of mitochondrial mutation T10432C with homoplasmic maternal inheritance as well as clinical and histopathological signs similar to LHON in humans. Live animals with the mutation could be used as a suitable animal model that can improve our understanding of the pathogenesis of LHON and other mitochondriopathies.

Ključne besede

govedo;genetika;živalski modeli;mitohondrijski genom;Leberjeva dedna optična nevropatija;LHON;

Podatki

Jezik: Angleški jezik
Leto izida:
Tipologija: 1.01 - Izvirni znanstveni članek
Organizacija: UL BF - Biotehniška fakulteta
UDK: 575:636.2
COBISS: 110712835 Povezava se bo odprla v novem oknu
ISSN: 1422-0067
Št. ogledov: 48
Št. prenosov: 28
Ocena: 0 (0 glasov)
Metapodatki: JSON JSON-RDF JSON-LD TURTLE N-TRIPLES XML RDFA MICRODATA DC-XML DC-RDF RDF

Ostali podatki

Sekundarni jezik: Slovenski jezik
Sekundarne ključne besede: govedo;genetika;živalski modeli;mitohondrijski genom;Leberjeva dedna optična nevropatija;LHON;
Vrsta dela (COBISS): Članek v reviji
Strani: str. 1-15
Letnik: ǂno. ǂ11
Zvezek: ǂart. ǂ6335
Čas izdaje: 2022
DOI: 10.3390/ijms23116335
ID: 15882637
Priporočena dela:
, ǂA ǂ“potential” model for Leber’s hereditary optic neuropathy
, oddaja Od muhe do slona, 1. program Radia Slovenije, 21. 6. 2013
, oddaja Dobra ura z Milico, TV Slovenija, 1. program, 29. 5. 2013
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