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Two detrimental mutations in cattle mitogenome indicate the presence of Leber's hereditary optic neuropathy

2019, 20 (1)   p. 19-24

Dinko Novosel, Vlatka Cubric-Curik, Mojca Simcic, Peter Dovc, Ino Curik


While mitochondriopathies, mitochondrial diseases, caused by mutations in mitochondrial DNA (mtDNA), are well documented in humans, single pathogenic mtDNA mutation or disorders are unknown in livestock populations. In a survey of 799 complete cattle mtDNAs belonging to more than 120 breeds two mutations, one in ND1 (C4171T) and the other in ND4L (T10663C) gene were identified, that are confirmed to be pathogenic in humans causing Leber's hereditary optic neuropathy (LHON). In one Cika cow with T10663C mutation, which was in humans reported to cause an acute onset of visual loss or/and many other LHON associated clinical manifestations, an exophthalmia of the right eye that might fit to the pathogenesis of LHON was observed. This work supports the existence of potentially detrimental mtDNA mutations in cattle, while aetiology and pathogenesis need to be further documented.


cattle, detrimental mutation, mtDNA

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