A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat

Hypertrophic cardiomyopathy (HCM) is the most common inherited human heart disease. The same disease has a high prevalence in cats, where it is also suspected to be inherited. More than 1500 variants in MYBPC3, MYH7 and other sarcomeric genes are associated with human HCM, while in cats, only two causative variants in MYBPC3 are currently known. Here, we describe an adult Domestic Shorthair cat with arterial thromboembolism and heart failure that was diagnosed with HCM on necropsy. Sequencing of the coding regions of MYBPC3 and MYH7 revealed 21 variants, of which the MYH7 c.5647G>A (p.(Glu1883Lys)) variant was further analysed, because its orthologous variant had already been reported in a human patient with HCM, but with limited causal evidence. This variant affects the highly conserved assembly competence domain, is predicted in silico to be damaging and was found only once in population databases. Recently, functional studies have confirmed its predicted damaging effect and a paralogous variant in MYH6 has been associated with cardiac disease in humans as well. This report of an orthologous variant in a cat with HCM and its absence in 200 additional cats provides further evidence for its disease-causing nature. As the first report of feline HCM caused by a variant in MYH7, this study also emphasises this gene as a candidate gene for future studies in cats and highlights the similarity between human and feline HCM

Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs

Clinical, pathological, and genetic findings of a primary hereditary ataxia found in a Malinois dog family are described andcompared with its human counterpart. Based on the family history and the phenotype/genotype relationships alreadydescribed in humans and dogs, a causal variant was expected to be found in KCNJ10. Rather surprisingly, whole-exomesequencing identified the SLC12A6 NC_006612.3(XM_014109414.2): c.178_181delinsCATCTCACTCAT (p.(Met60Hisfs*14)) truncating variant. This loss-of-function variant perfectly segregated within the affected Malinois familyin an autosomal recessive way and was not found in 562 additional reference dogs from 18 different breeds, includingMalinois. In humans, SLC12A6 variants cause “agenesis of the corpus callosum with peripheral neuropathy” (ACCPN, aliasAndermann syndrome), owing to a dysfunction of this K+–Cl−cotransporter. However, depending on the variant (includin gtruncating variants), different clinical features are observed within ACCPN. The variant in dogs encodes the shortest isoformdescribed so far and its resultant phenotype is quite different from humans, as no signs of peripheral neuropathy, agenesis ofthe corpus callosum nor obvious mental retardation have been observ ed in dogs. On the other hand, progressivespinocerebellar ataxia, which is the most important feature of the canine phenotype, hindlimb paresis, and myokymia -likemuscle contractions have not been descri bed in humans with ACCPN so far. As this is the first report of a naturally occurringdisease-causing SLC12A6 variant in a non-human species, the canine model will be highly valuable to better understand thecomplex molecular pathophysio logy of SLC12A6-related neurological disorders and to evaluate novel treatment strategies

Honey bee predisposition of resistance to ubiquitous mite infestations

Host-parasite co-evolution history is lacking when parasites switch to novel hosts. This was the case for Western honey bees (Apis mellifera) when the ectoparasitic mite, Varroa destructor, switched hosts from Eastern honey bees (Apis cerana). This mite has since become the most severe biological threat to A. mellifera worldwide. However, some A. mellifera populations are known to survive infestations, largely by suppressing mite population growth. One known mechanism is suppressed mite reproduction (SMR), but the underlying genetics are poorly understood. Here, we take advantage of haploid drones, originating from one queen from the Netherlands that developed Varroa-resistance, whole exome sequencing and elastic-net regression to identify genetic variants associated with SMR in resistant honeybees. An eight variants model predicted 88% of the phenotypes correctly and identified six risk and two protective variants. Reproducing and non-reproducing mites could not be distinguished using DNA microsatellites, which is in agreement with the hypothesis that it is not the parasite but the host that adapted itself. Our results suggest that the brood pheromone-dependent mite oogenesis is disrupted in resistant hosts. The identified genetic markers have a considerable potential to contribute to a sustainable global apiculture

Screening Of Foot-related Musculoskeletal Problems In Non-sedentary Employees, How Can We Improve The Quantification?

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Towards analysis of foot motion using dynamic 3D surface scanning

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Towards analysis of foot motion using dynamic 3d surface scanning

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Comparison of biomechanical foot analyses between nine Flemish foot-experts

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Development of a model to analyze foot biomechanics using dynamic 3D surface scanning

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A Protocol To Test Durability Of Traditional And Additive Manufactured AFOs: Preliminary Results

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Relation between experts’ foot labels and quantitative foot measurements

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