The Consequences of Mitochondrial T10432C Mutation in Cika Cattle: A "Potential" Model for Leber's Hereditary Optic Neuropathy.

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.

Estimation of Genetic Parameters of Type Traits in First Parity Cows of the Autochthonous Cika Cattle in Slovenia.

The aim of this study was to estimate genetic parameters of 26 individual and four composite type traits in first parity Cika cows. An analysis of variance was performed with the generalized linear model procedure of the SAS/STAT statistical package, where the fixed effects of year of recording, cow's age at recording and days after calving as a linear regression were included in the model. The variance components for the direct additive genetic effect and the herd effect in all type traits were estimated using the REML method in the VCE-6 software package. The estimated heritabilities ranged from 0.42 to 0.67 for the measured body frame traits, from 0.36 to 0.80 for the scored autochthonous traits, from 0.11 to 0.61 for the scored body frame traits, and from 0.20 to 0.47 for the scored udder traits. The estimated heritabilities for the composite traits called "autochthonous characteristics", "muscularity", "body frame" and "udder" were 0.55, 0.19, 0.19, and 0.26, respectively. The estimated genetic correlations among the measured body frame traits were positive and high, while the majority of them among the scored body frame traits were low to moderate. The estimated proportions of variance explained by the herd effect for the composite traits "autochthonous characteristics," "muscularity," "body frame" and "udder" were 0.09, 0.28, 0.14, and 0.10, respectively. The estimated heritabilities for the type traits of first parity Cika cows were similar to those reported for other breeds where breeding values have been routinely predicted for a long time. All estimated genetic parameters are already used for breeding value prediction in the Cika cattle population.